title: Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.
authors.affiliation: Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain; Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Díaz-Manera
authors.forename: A
authors.initials: A
authors.lastname: Alejaldre
authors.forename: J
authors.initials: J
authors.lastname: Llauger
authors.forename: S
authors.initials: S
authors.lastname: Mirabet
authors.forename: R
authors.initials: R
authors.lastname: Rojas-García
authors.forename: A
authors.initials: A
authors.lastname: Ramos-Fransi
authors.forename: E
authors.initials: E
authors.lastname: Gallardo
authors.forename: I
authors.initials: I
authors.lastname: Illa
mesh_terms: D024722:Cardiac Myosins / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains
keywords: Laing disease; MYH7 gene; axial weakness; cardiomyopathy; muscle dystrophy