title: Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
abstract: Myosin Storage Myopathies (MSM) have emerged as a new group of inherited myopathies with heterogenous clinical severity and age of onset. We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mutation has already been reported to be associated with MSM presenting as neonatal hypotony. Our index case complained of proximal muscle weakness at age 30. Her daughter presented at birth with a cardiomyopathy without any skeletal muscle involvement. This report underlines the clinical variability of MSM even with a given mutation or in a same family.
authors.affiliation: Department of Pathology, Rangueil University Hospital, TSA 50032, 31059 Toulouse Cedex 9, France. uro-coste.e@chu-toulouse.fr
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Uro-Coste
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Arné-Bes
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Pellissier
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Thierry
authors.initials: T
authors.lastname: Levade
authors.forename: François
authors.initials: F
authors.lastname: Heitz
authors.forename: Dominique
authors.initials: D
authors.lastname: Figarella-Branger
authors.forename: Marie-Bernadette
authors.initials: MB
authors.lastname: Delisle
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D024722:Cardiac Myosins / Q000235:genetics*; D009202:Cardiomyopathies / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006321:Heart / Q000503:physiopathology; D006801:Humans; D007930:Leucine / Q000235:genetics; D008875:Middle Aged; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D018995:Myosin Heavy Chains / Q000235:genetics*; D010641:Phenotype; D011392:Proline / Q000235:genetics; D055815:Young Adult
chemical_list: C501641:MYH7 protein, human; D011392:Proline; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains; D007930:Leucine