title: Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.
abstract: 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.
  
  
  
  Clinical and molecular characterization was performed in a large, 6-generation, Caucasian family with MYH14 dHMN.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus, Ohio, 43210, USA.|Department of Pediatric Neurology, Nationwide Children's Hospital, Columbus, Ohio, USA.
authors.forename: Stanley
authors.initials: S
authors.lastname: Iyadurai
authors.affiliation: Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus, Ohio, 43210, USA.|Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.|Department of Physical Medicine and Rehabilitation, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: W David
authors.initials: WD
authors.lastname: Arnold
authors.affiliation: Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus, Ohio, 43210, USA.|Department of Pediatric Neurology, Nationwide Children's Hospital, Columbus, Ohio, USA.|Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: John T
authors.initials: JT
authors.lastname: Kissel
authors.affiliation: Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: Corey
authors.initials: C
authors.lastname: Ruhno
authors.affiliation: Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: Vicki L
authors.initials: VL
authors.lastname: Mcgovern
authors.affiliation: Department of Molecular Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Snyder
authors.affiliation: Department of Molecular Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: Thomas W
authors.initials: TW
authors.lastname: Prior
authors.affiliation: Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus, Ohio, 43210, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Roggenbuck
authors.affiliation: Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus, Ohio, 43210, USA.|Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: Arthur H
authors.initials: AH
authors.lastname: Burghes
authors.affiliation: Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus, Ohio, 43210, USA.|Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.|Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Kolb
mesh_terms: D000200:Action Potentials / Q000235:genetics; D000328:Adult; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000502:physiology / Q000503:physiopathology; D018995:Myosin Heavy Chains / Q000235:genetics*; D024462:Myosin Type II / Q000235:genetics*; D009656:North America / Q000453:epidemiology; D010641:Phenotype
chemical_list: D018995:Myosin Heavy Chains; D024462:Myosin Type II; C477830:MYH7b protein, human
keywords: autosomal dominant; distal hereditary motor neuropathy; hearing loss; myopathy; myosin