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Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family
Author(s) -
Iyadurai Stanley,
Arnold W. David,
Kissel John T.,
Ruhno Corey,
Mcgovern Vicki L.,
Snyder Pamela J.,
Prior Thomas W.,
Roggenbuck Jennifer,
Burghes Arthur H.,
Kolb Stephen J.
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25491
Subject(s) - myopathy , phenotype , variable expression , medicine , weakness , hearing loss , age of onset , pathology , genetics , biology , audiology , anatomy , disease , gene
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