title: A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
abstract: MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel MYH7 mutation (p.Leu1597Arg) that arose de novo in two unrelated probands. Proband 1 has a myopathy characterized by distal weakness and prominent contractures and histopathology typical of multi-minicore disease. Proband 2 has an axial myopathy and histopathology consistent with congenital fiber type disproportion. These cases highlight the broad spectrum of clinical and histological patterns associated with MYH7 mutations, and provide further evidence that MYH7 is likely responsible for a greater proportion of congenital myopathies than currently appreciated.
authors.affiliation: INMR, The Children's Hospital at Westmead & Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.
authors.forename: Nigel F
authors.initials: NF
authors.lastname: Clarke
authors.forename: Kimberly
authors.initials: K
authors.lastname: Amburgey
authors.forename: James
authors.initials: J
authors.lastname: Teener
authors.forename: Sandra
authors.initials: S
authors.lastname: Camelo-Piragua
authors.forename: Akanchha
authors.initials: A
authors.lastname: Kesari
authors.forename: Jaya
authors.initials: J
authors.lastname: Punetha
authors.forename: Leigh B
authors.initials: LB
authors.lastname: Waddell
authors.forename: Mark
authors.initials: M
authors.lastname: Davis
authors.forename: Nigel G
authors.initials: NG
authors.lastname: Laing
authors.forename: Nicole
authors.initials: N
authors.lastname: Monnier
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
authors.forename: Eric P
authors.initials: EP
authors.lastname: Hoffman
authors.forename: James J
authors.initials: JJ
authors.lastname: Dowling
mesh_terms: D000293:Adolescent; D000328:Adult; D024722:Cardiac Myosins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains