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

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

SUBMITTER: Iyadurai S 

PROVIDER: S-EPMC5440221 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature