title: Congenital myopathies: the current status.
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D006801:Humans; D017696:Myopathies, Nemaline / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation / Q000235:genetics