Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large,multigenerational North American family |
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| Authors: | W David Arnold MD John T Kissel MD Corey Ruhno BSc Vicki L Mcgovern PhD Pamela J Snyder PhD Thomas W Prior PhD Jennifer Roggenbuck MS Arthur H Burghes PhD Stephen J Kolb MD |
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| Institution: | 1. Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA;2. Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA;3. Department of Physical Medicine and Rehabilitation, The Ohio State University Wexner Medical Center, Columbus, Ohio, USAThe first 2 authors (S.I. and W.D.A.) contributed equally to this study.;4. Department of Pediatric Neurology, Nationwide Children's Hospital, Columbus, Ohio, USA;5. Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA;6. Department of Molecular Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA |
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| 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 |
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| Keywords: | autosomal dominant distal hereditary motor neuropathy hearing loss myopathy myosin |
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