Article
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.
Muscle & nerve - 1 Aug 2017
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
Abstract excerpt
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...
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