Variable phenotypic expression and onset in MYH14 distal HMN phenotype in a large, multigenerational North American family.

Variable phenotypic expression and onset in MYH14 distal HMN phenotype in a large, multigenerational North American family.

Muscle Nerve. 2016 Nov 22;:

Authors: Iyadurai S, Arnold WD, Kissel JT, Ruhno C, McGovern VL, Snyder PJ, Prior TW, Roggenbuck J, Burghes AH, Kolb SJ

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.
OBJECTIVE: To 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.
CONCLUSIONS: Mutation of MYH14 can result in a range of neuromuscular phenotypes that includes a dHMN and hearing loss phenotype with variable age of onset. This article is protected by copyright. All rights reserved.

PMID: 27875632 [PubMed - as supplied by publisher]

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