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Journal articles on the topic 'Hereditary motor neuropathy, HMN'

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Published: 4 June 2021

Last updated: 20 February 2023

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1

Takashima, Hiroshi. "Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)." Rinsho Shinkeigaku 54, no. 12 (2014): 957–59. http://dx.doi.org/10.5692/clinicalneurol.54.957.

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2

Previtali, Stefano C., Edward Zhao, Dejan Lazarevic, Giovanni Battista Pipitone, Gian Maria Fabrizi, Fiore Manganelli, Anna Mazzeo, et al. "Expanding the spectrum of genes responsible for hereditary motor neuropathies." Journal of Neurology, Neurosurgery & Psychiatry 90, no. 10 (June 5, 2019): 1171–79. http://dx.doi.org/10.1136/jnnp-2019-320717.

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BackgroundInherited peripheral neuropathies (IPNs) represent a broad group of genetically and clinically heterogeneous disorders, including axonal Charcot-Marie-Tooth type 2 (CMT2) and hereditary motor neuropathy (HMN). Approximately 60%–70% of cases with HMN/CMT2 still remain without a genetic diagnosis. Interestingly, mutations in HMN/CMT2 genes may also be responsible for motor neuron disorders or other neuromuscular diseases, suggesting a broad phenotypic spectrum of clinically and genetically related conditions. Thus, it is of paramount importance to identify novel causative variants in HMN/CMT2 patients to better predict clinical outcome and progression.MethodsWe designed a collaborative study for the identification of variants responsible for HMN/CMT2. We collected 15 HMN/CMT2 families with evidence for autosomal recessive inheritance, who had tested negative for mutations in 94 known IPN genes, who underwent whole-exome sequencing (WES) analyses. Candidate genes identified by WES were sequenced in an additional cohort of 167 familial or sporadic HMN/CMT2 patients using next-generation sequencing (NGS) panel analysis.ResultsBioinformatic analyses led to the identification of novel or very rare variants in genes, which have not been previously associated with HMN/CMT2 (ARHGEF28, KBTBD13, AGRN and GNE); in genes previously associated with HMN/CMT2 but in combination with different clinical phenotypes (VRK1 and PNKP), and in the SIGMAR1 gene, which has been linked to HMN/CMT2 in only a few cases. These findings were further validated by Sanger sequencing, segregation analyses and functional studies.ConclusionsThese results demonstrate the broad spectrum of clinical phenotypes that can be associated with a specific disease gene, as well as the complexity of the pathogenesis of neuromuscular disorders.

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3

Auer-Grumbach, Michaela, Jan Senderek, and Sabine Rudnik-Schöneborn. "Hereditary Neuropathies: Update 2017." Neuropediatrics 48, no. 04 (June 8, 2017): 282–93. http://dx.doi.org/10.1055/s-0037-1603518.

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AbstractHereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are additional entities such as hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMNs), and hereditary sensory and autonomic neuropathies (HSANs). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether close to 100 genes involved. Mutation detection rates vary considerably, reaching up to 80% in demyelinating CMT (CMT1) but are still as low as 10 to 30% in axonal CMT (CMT2), HMN, and HSAN. Based on current information, analysis of only four genes (PMP22, GJB1, MPZ, MFN2) identifies 80 to 90% of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and genetic testing algorithms in the different subgroups of hereditary neuropathies.

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4

TIMMERMAN, V., J. BEUTEN, J. IROBI, P. De JONGHE, J. J. MARTIN, and C. VAN BROECKHOVEN. "Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics." Annals of the New York Academy of Sciences 883, no. 1 (October 1999): 60–64. http://dx.doi.org/10.1111/j.1749-6632.1999.tb08568.x.

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5

Timmerman, V. "Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24." Human Molecular Genetics 5, no. 7 (July 1, 1996): 1065–69. http://dx.doi.org/10.1093/hmg/5.7.1065.

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6

Timmerman, Vincent, Peter Raeymaekers, Eva Nelis, Peter De Jonghe, Ludo Muylle, Chantal Ceuterick, Jean-Jacques Martin, and Christine Van Broeckhoven. "Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree." Journal of the Neurological Sciences 109, no. 1 (May 1992): 41–48. http://dx.doi.org/10.1016/0022-510x(92)90091-x.

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7

IROBI, J., E. NELIS, J. MEULEMAN, K. VENKEN, P. JONGHE, C. BROECKHOVEN, and V. TIMMERMAN. "Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3." Annals of Human Genetics 65, no. 6 (November 2001): 517–29. http://dx.doi.org/10.1046/j.1469-1809.2001.6560517.x.

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8

Irobi, Joy, Eva Nelis, Kristien Verhoeven, Els De Vriendt, Ines Dierick, Peter De Jonghe, Christine Van Broeckhoven, and Vincent Timmerman. "Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3." Journal of the Peripheral Nervous System 7, no. 2 (June 2002): 87–95. http://dx.doi.org/10.1046/j.1529-8027.2002.02014.x.

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9

Scarlino, Stefania, Teuta Domi, Laura Pozzi, Alessandro Romano, Giovanni Battista Pipitone, Yuri Matteo Falzone, Lorena Mosca, et al. "Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort." International Journal of Molecular Sciences 21, no. 9 (May 8, 2020): 3346. http://dx.doi.org/10.3390/ijms21093346.

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Although the genetic architecture of amyotrophic lateral sclerosis (ALS) is incompletely understood, recent findings suggest a complex model of inheritance in ALS, which is consistent with a multistep pathogenetic process. Therefore, the aim of our work is to further explore the architecture of ALS using targeted next generation sequencing (NGS) analysis, enriched in motor neuron diseases (MND)-associated genes which are also implicated in axonal hereditary motor neuropathy (HMN), in order to investigate if disease expression, including the progression rate, could be influenced by the combination of multiple rare gene variants. We analyzed 29 genes in an Italian cohort of 83 patients with both familial and sporadic ALS. Overall, we detected 43 rare variants in 17 different genes and found that 43.4% of the ALS patients harbored a variant in at least one of the investigated genes. Of note, 27.9% of the variants were identified in other MND- and HMN-associated genes. Moreover, multiple gene variants were identified in 17% of the patients. The burden of rare variants is associated with reduced survival and with the time to reach King stage 4, i.e., the time to reach the need for percutaneous endoscopic gastrostomy (PEG) positioning or non-invasive mechanical ventilation (NIMV) initiation, independently of known negative prognostic factors. Our data contribute to a better understanding of the molecular basis of ALS supporting the hypothesis that rare variant burden could play a role in the multistep model of disease and could exert a negative prognostic effect. Moreover, we further extend the genetic landscape of ALS to other MND-associated genes traditionally implicated in degenerative diseases of peripheral axons, such as HMN and CMT2.

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10

Yoshida, Mari. "Neuropathology of proximal-dominant hereditary motor and sensory neuropathy (HMSN-P)." Rinsho Shinkeigaku 53, no. 11 (2013): 1200–1202. http://dx.doi.org/10.5692/clinicalneurol.53.1200.

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11

Takashima, Hiroshi. "History of Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)." Rinsho Shinkeigaku 53, no. 11 (2013): 1196–98. http://dx.doi.org/10.5692/clinicalneurol.53.1196.

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12

Ishiura, Hiroyuki, and Shoji Tsuji. "Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG." Rinsho Shinkeigaku 53, no. 11 (2013): 1203–5. http://dx.doi.org/10.5692/clinicalneurol.53.1203.

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13

Gregianin, Elisa, Giorgia Pallafacchina, Sofia Zanin, Valeria Crippa, Paola Rusmini, Angelo Poletti, Mingyan Fang, et al. "Loss-of-function mutations in theSIGMAR1gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+signalling." Human Molecular Genetics 25, no. 17 (July 8, 2016): 3741–53. http://dx.doi.org/10.1093/hmg/ddw220.

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14

El-Bazzal, Lara, Khalil Rihan, Nathalie Bernard-Marissal, Christel Castro, Eliane Chouery-Khoury, Jean-Pierre Desvignes, Alexandre Atkinson, et al. "Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1." Human Molecular Genetics 28, no. 14 (April 2, 2019): 2378–94. http://dx.doi.org/10.1093/hmg/ddz060.

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Abstract Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot–Marie–Tooth syndromes, but characterized by an exclusive involvement of the motor part of the peripheral nervous system. Here, we describe two new compound heterozygous mutations in VRK1, the vaccinia-related kinase 1 gene, in two siblings from a Lebanese family, affected with dHMN associated with upper motor neurons (MNs) signs. The mutations lead to severely reduced levels of VRK1 by impairing its stability, and to a shift of nuclear VRK1 to cytoplasm. Depletion of VRK1 from the nucleus alters the dynamics of coilin, a phosphorylation target of VRK1, by reducing its stability through increased proteasomal degradation. In human-induced pluripotent stem cell-derived MNs from patients, we demonstrate that this drop in VRK1 levels leads to Cajal bodies (CBs) disassembly and to defects in neurite outgrowth and branching. Mutations in VRK1 have been previously reported in several neurological diseases affecting lower or both upper and lower MNs. Here, we describe a new phenotype linked to VRK1 mutations, presenting as a classical slowly progressive motor neuropathy, beginning in the second decade of life, with associated upper MN signs. We provide, for the first time, evidence for a role of VRK1 in regulating CB assembly in MNs. The observed MN defects are consistent with a length dependent axonopathy affecting lower and upper MNs, and we propose that diseases due to mutations in VRK1 should be grouped under a unique entity named `VRK1-related motor neuron disease’.

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15

De Jonghe, Peter, Vincent Timmerman, and Christine Van Broeckhoven. "2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2–HMSN II) and Distal Hereditary Motor Neuropathy (Distal HMN–Spinal CMT)." Neuromuscular Disorders 8, no. 6 (August 1998): 426–31. http://dx.doi.org/10.1016/s0960-8966(98)00025-x.

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16

Hahn, A. F., A. W. Parkes, C. F. Bolton, and S. A. Stewart. "Neuromyotonia in hereditary motor neuropathy." Journal of Neurology, Neurosurgery & Psychiatry 54, no. 3 (March 1, 1991): 230–35. http://dx.doi.org/10.1136/jnnp.54.3.230.

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17

Pleasure, David. "Hereditary Motor and Sensory Neuropathy." Archives of Neurology 56, no. 10 (October 1, 1999): 1195. http://dx.doi.org/10.1001/archneur.56.10.1195.

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18

Millichap, J. Gordon. "Hereditary Motor and Sensory Neuropathy Mutation." Pediatric Neurology Briefs 6, no. 6 (June 1, 1992): 44. http://dx.doi.org/10.15844/pedneurbriefs-6-6-5.

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19

Millichap, J. Gordon. "Hereditary Motor and Sensory Neuropathy (HMSN)." Pediatric Neurology Briefs 1, no. 5 (October 1, 1987): 31. http://dx.doi.org/10.15844/pedneurbriefs-1-5-1.

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20

Millichap, J. Gordon. "Hereditary Motor and Sensory Neuropathy IIB." Pediatric Neurology Briefs 11, no. 2 (February 1, 1997): 13. http://dx.doi.org/10.15844/pedneurbriefs-11-2-8.

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21

Gabreëls-Festen, Anneke, and Fons Gabreëls. "Hereditary Demyelinating Motor and Sensory Neuropathy." Brain Pathology 3, no. 2 (April 1993): 135–46. http://dx.doi.org/10.1111/j.1750-3639.1993.tb00738.x.

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22

Thomas, P. K. "Autosomal recessive hereditary motor and sensory neuropathy." Current Opinion in Neurology 13, no. 5 (October 2000): 565–68. http://dx.doi.org/10.1097/00019052-200010000-00010.

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23

BERCIANO, J., O. COMBARROS, J. FIGOLS, J. CALLEJA, A. CABELLO, I. SILOS, and F. CORIA. "HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE II." Brain 109, no. 5 (1986): 897–914. http://dx.doi.org/10.1093/brain/109.5.897.

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24

Cardoso, Francisco E. C., and Joseph Jankovic. "Hereditary motor-sensory neuropathy and movement disorders." Muscle & Nerve 16, no. 9 (September 1993): 904–10. http://dx.doi.org/10.1002/mus.880160904.

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25

Larsen, Marianne, and Michael Hammer. "Hereditary motor and sensory neuropathy type I." Pediatric Neurology 11, no. 2 (September 1994): 115. http://dx.doi.org/10.1016/0887-8994(94)90263-1.

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26

Govbah, I. А. "Clinical Polymorphism of 1Аtype Hereditary Motor-Sensory Neuropathy." Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 1, no. 2 (May 19, 2016): 37–43. http://dx.doi.org/10.26693/jmbs01.02.037.

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27

Hardie, R., A. E. Harding, N. Hirsch, C. Gelder, A. D. Macrae, and P. K. Thomas. "Diaphragmatic weakness in hereditary motor and sensory neuropathy." Journal of Neurology, Neurosurgery & Psychiatry 53, no. 4 (April 1, 1990): 348–50. http://dx.doi.org/10.1136/jnnp.53.4.348.

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28

Green, M. M., and C. Laroche. "Diaphragmatic weakness in hereditary motor and sensory neuropathy." Journal of Neurology, Neurosurgery & Psychiatry 54, no. 8 (August 1, 1991): 759. http://dx.doi.org/10.1136/jnnp.54.8.759.

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29

Horacek, Ondrej, Radim Mazanec, Craig E. Morris, and Alena Kobesova. "Spinal Deformities in Hereditary Motor and Sensory Neuropathy." Spine 32, no. 22 (October 2007): 2502–8. http://dx.doi.org/10.1097/brs.0b013e3181573d4e.

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30

HAHN, A. F., W. F. BROWN, W. J. KOOPMAN, and T. E. FEASBY. "X-LINKED DOMINANT HEREDITARY MOTOR AND SENSORY NEUROPATHY." Brain 113, no. 5 (1990): 1511–25. http://dx.doi.org/10.1093/brain/113.5.1511.

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31

Barwick, Katy E. S., Jane Wright, Saeed Al-Turki, Meriel M. McEntagart, Ajith Nair, Barry Chioza, Ali Al-Memar, et al. "Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy." American Journal of Human Genetics 91, no. 6 (December 2012): 1103–7. http://dx.doi.org/10.1016/j.ajhg.2012.09.019.

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32

Panas, Marios, Nikolaos Kalfakis, Georgia Karadima, Panagiota Davaki, and Demetris Vassilopoulos. "Friedreich's ataxia mimicking hereditary motor and sensory neuropathy." Journal of Neurology 249, no. 11 (November 1, 2002): 1583–86. http://dx.doi.org/10.1007/s00415-002-0902-2.

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33

Sommer, Claudia. "Hereditary Motor and Sensory Neuropathy With Optic Atrophy." Archives of Neurology 46, no. 9 (September 1, 1989): 973. http://dx.doi.org/10.1001/archneur.1989.00520450043017.

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34

de Visser, Marianne, Jessica E. Hoogendijk, Bram W. Ongerboer de Visser, and Bernhard J. Verbeeten. "Calf enlargement in hereditary motor and sensory neuropathy." Muscle & Nerve 13, no. 1 (January 1990): 40–46. http://dx.doi.org/10.1002/mus.880130109.

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35

Rudnik-Schöneborn, Sabine, Michaela Auer-Grumbach, and Jan Senderek. "Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020." Medizinische Genetik 32, no. 3 (September 1, 2020): 207–19. http://dx.doi.org/10.1515/medgen-2020-2038.

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Abstract Inherited peripheral neuropathy is the most common hereditary neuromuscular disease with a prevalence of about 1:2,500. The most frequent form is Charcot-Marie-Tooth disease (CMT, or hereditary motor and sensory neuropathy [HMSN]). Other clinical entities are hereditary neuropathy with liability to pressure palsies (HNPP), distal hereditary motor neuropathies (dHMN), and hereditary sensory and autonomic neuropathies (HSAN). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether more than 100 genes involved. Mutation detection rates vary considerably, reaching up to 80 % in demyelinating CMT (CMT1) but are still as low as 10–30 % in axonal CMT (CMT2), dHMN, and HSAN. Based on current information, analysis of only four genes (PMP22, GJB1, MPZ, MFN2) identifies 80–90 % of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and diagnostic yields in the different subgroups of hereditary CMT and motor neuropathies.

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36

Bansagi, Boglarka, Helen Griffin, Roger G. Whittaker, Thalia Antoniadi, Teresinha Evangelista, James Miller, Mark Greenslade, et al. "Genetic heterogeneity of motor neuropathies." Neurology 88, no. 13 (March 1, 2017): 1226–34. http://dx.doi.org/10.1212/wnl.0000000000003772.

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Objective:To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England.Methods:Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were performed in 105 patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64 patients), axonal motor neuropathy (motor Charcot-Marie-Tooth disease [CMT2], 16 patients), or complex neurologic disease predominantly affecting the motor nerves (hereditary motor neuropathy plus, 25 patients).Results:The prevalence of dHMN is 2.14 affected individuals per 100,000 inhabitants (95% confidence interval 1.62–2.66) in the North of England. Causative mutations were identified in 26 out of 73 index patients (35.6%). The diagnostic rate in the dHMN subgroup was 32.5%, which is higher than previously reported (20%). We detected a significant defect of neuromuscular transmission in 7 cases and identified potentially causative mutations in 4 patients with multifocal demyelinating motor neuropathy.Conclusions:Many of the genes were shared between dHMN and motor CMT2, indicating identical disease mechanisms; therefore, we suggest changing the classification and including dHMN also as a subcategory of Charcot-Marie-Tooth disease. Abnormal neuromuscular transmission in some genetic forms provides a treatable target to develop therapies.

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37

Kiteva-Trencevska, G., S. Vlaski-Jekic, and R. Naumovski. "P181 Electrophysiology of hereditary motor & sensory neuropathy and hereditary spinocerebellar ataxia." Electroencephalography and Clinical Neurophysiology 99, no. 4 (October 1996): 317. http://dx.doi.org/10.1016/0013-4694(96)88307-6.

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38

Marinho, Jaqueline Luvisotto, José Luis Alonso Nieto, and Edenilson Eduardo Calore. "Dejerine-Sottas disease: a case report." Sao Paulo Medical Journal 121, no. 5 (2003): 207–9. http://dx.doi.org/10.1590/s1516-31802003000500006.

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CONTEXT: Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies) are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE: The objective of the present work was to describe a case of Dejerine-Sottas disease. CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed.

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39

Rossor, Alexander M. "Broadening the genetic spectrum of distal hereditary motor neuropathy." European Journal of Neurology 28, no. 4 (February 2021): 1104–5. http://dx.doi.org/10.1111/ene.14734.

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40

Говбах, Ирина Александровна. "Modern approaches to diagnostics of hereditary motor-sensory neuropathy." ScienceRise 3, no. 4(8) (March 19, 2015): 43. http://dx.doi.org/10.15587/2313-8416.2015.39134.

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41

Lee, Duk-Yong, In-Ho Choi, Chin-Youg Chung, Hung-Han Bae, and Kang-Sup Yoon. "A Case of Hereditary Sensory-Motor Neuropathy Type V." Journal of the Korean Orthopaedic Association 31, no. 1 (1996): 154. http://dx.doi.org/10.4055/jkoa.1996.31.1.154.

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42

Nakagawa, Masanori. "A wide spectrum of Hereditary Motor Sensory Neuropathy (HMSN)." Rinsho Shinkeigaku 49, no. 11 (2009): 950–52. http://dx.doi.org/10.5692/clinicalneurol.49.950.

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43

Lee, Diana C., Rebecca Meyer‐Schuman, Chelsea Bacon, Michael E. Shy, Anthony Antonellis, and Steven S. Scherer. "A recurrent GARS mutation causes distal hereditary motor neuropathy." Journal of the Peripheral Nervous System 24, no. 4 (November 22, 2019): 320–23. http://dx.doi.org/10.1111/jns.12353.

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44

Combarros, O., J. Calleja, J. M. Polo, and J. Berciano. "Prevalence of hereditary motor and sensory neuropathy in Cantabria." Acta Neurologica Scandinavica 75, no. 1 (January 1987): 9–12. http://dx.doi.org/10.1111/j.1600-0404.1987.tb07882.x.

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45

Carter, Gregory T., Richard T. Abresch, William M. Fowler, E. Ralph Johnson, David D. Kilmer, and Craig M. McDonald. "Hereditary Motor and Sensory Neuropathy, Types I and II." American Journal of Physical Medicine & Rehabilitation 74, Supplement 1 (September 1995): S140—S149. http://dx.doi.org/10.1097/00002060-199509001-00008.

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46

SPAANS, F., F. G. I. JENNEKENS, J. F. MIRANDOLLE, J. B. BIJLSMA, and G. C. DE GAST. "MYOTONIC DYSTROPHY ASSOCIATED WITH HEREDITARY MOTOR AND SENSORY NEUROPATHY." Brain 109, no. 6 (1986): 1149–68. http://dx.doi.org/10.1093/brain/109.6.1149.

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47

OUVRIER, ROBERT A., JAMES G. MCLEOD, and THERESE E. CONCHIN. "THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY." Brain 110, no. 1 (1987): 121–48. http://dx.doi.org/10.1093/brain/110.1.121.

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48

Huang, Y. ‐N, H. ‐J Chuang, H. ‐W Hsueh, H. ‐C Huang, N. ‐C Lee, C. ‐C Chao, P. ‐H Huang, et al. "A case of GNE myopathy mimicking hereditary motor neuropathy." European Journal of Neurology 27, no. 11 (October 13, 2020): 2389–91. http://dx.doi.org/10.1111/ene.14489.

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49

Shi, Chang-he, Bo Song, Hai-yang Luo, Cheng-yuan Mao, Dan-dan Shang, Yuan Cao, Shi-lei Sun, Jun Wu, Zheng-ping Zhuang, and Yu-ming Xu. "Recessive hereditary motor and sensory neuropathy caused byIGHMBP2gene mutation." Neurology 85, no. 4 (July 1, 2015): 383–84. http://dx.doi.org/10.1212/wnl.0000000000001747.

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50

DYCK, PETER JAMES, CAROL J. SWANSON, RICK A. NISHIMURA, FRANCIS J. KAZMIER, and J. T. LIE. "Cardiomyopathy in Patients With Hereditary Motor and Sensory Neuropathy." Mayo Clinic Proceedings 62, no. 8 (August 1987): 672–75. http://dx.doi.org/10.1016/s0025-6196(12)65217-3.

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