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. 2017 Aug;56(2):341-345.
doi: 10.1002/mus.25491. Epub 2017 Feb 20.

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family

Stanley Iyadurai  1   2 , W David Arnold  1   3   4 , John T Kissel  1   2   3 , Corey Ruhno  5 , Vicki L Mcgovern  5 , Pamela J Snyder  6 , Thomas W Prior  6 , Jennifer Roggenbuck  1 , Arthur H Burghes  1   5 , Stephen J Kolb  1   3   5
Affiliations

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family

Stanley Iyadurai et al. Muscle Nerve. 2017 Aug.

Abstract

Introduction: Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype with dHMN, myopathy, hoarseness, and hearing loss was reported in a Korean family with a c.2822G>T mutation in MYH14. In this study we report phenotypic features in a North American family with the c.2822G>T in MYH14.

Methods: Clinical and molecular characterization was performed in a large, 6-generation, Caucasian family with MYH14 dHMN.

Results: A total of 11 affected and 7 unaffected individuals were evaluated and showed varying age of onset and severity of weakness. Genotypic concordance was confirmed with molecular analysis. Electrophysiological studies demonstrated distal motor axonal degeneration without myopathy in all affected subjects tested.

Conclusion: Mutation of MYH14 can result in a range of neuromuscular phenotypes that includes a dHMN and hearing loss phenotype with variable age of onset. Muscle Nerve 56: 341-345, 2017.

Keywords: autosomal dominant; distal hereditary motor neuropathy; hearing loss; myopathy; myosin.

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Figures

Figure 1
Figure 1
Pedigree of the affected family. Filled symbols indicate affected family members. Arrowhead indicates proband.
Figure 2
Figure 2
Features of muscle atrophy in distal upper and lower limbs in 3 affected family members.
See this image and copyright information in PMC

References

    1. Tajsharghi H, Oldfors A. Myosinopathies: pathology and mechanisms. Acta neuropathologica. 2013;125(1):3–18. - PMC - PubMed
    1. Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nature genetics. 1996;13(1):63–69. - PubMed
    1. Cheney RE, Mooseker MS. Unconventional myosins. Current Opinion in Cell Biology. 1992;4(1):27–35. - PubMed
    1. O'Connell CB, Tyska MJ, Mooseker MS. Myosin at work: Motor adaptations for a variety of cellular functions. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 2007;1773(5):615–630. - PubMed
    1. Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nurnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4) American journal of human genetics. 2004;74(4):770–776. - PMC - PubMed

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