title: Congenital myopathy with type 2A muscle fiber uniformity and smallness.
abstract: We describe a 12-year-old girl with congenital myopathy. ATPase histochemical reactions and immunocytochemical analysis of muscle fiber-type composition with monoclonal antibodies against slow, fast (2A and 2B) and fetal myosin demonstrate that this congenital disease is characterized by type 2A muscle fiber uniformity and smallness. This is an unusual feature for a congenital myopathy in which the fiber type predominance, when present, is confined to type I.
authors.affiliation: Istituto di Clinica Neurologica, Centro, Dino Ferrari, Università degli Studi di Milano.
authors.forename: A
authors.initials: A
authors.lastname: Gallanti
authors.forename: A
authors.initials: A
authors.lastname: Prelle
authors.forename: L
authors.initials: L
authors.lastname: Chianese
authors.forename: S
authors.initials: S
authors.lastname: Barbieri
authors.forename: S
authors.initials: S
authors.lastname: Jann
authors.forename: S
authors.initials: S
authors.lastname: Schiaffino
authors.forename: A
authors.initials: A
authors.lastname: Comini
authors.forename: E
authors.initials: E
authors.lastname: Scarpini
authors.forename: G
authors.initials: G
authors.lastname: Pellegrini
authors.forename: M
authors.initials: M
authors.lastname: Moggio
mesh_terms: D001706:Biopsy; D002648:Child; D005260:Female; D006801:Humans; D009123:Muscle Hypotonia / Q000473:pathology*; D009132:Muscles / Q000473:pathology*; D015879:Myosin Subfragments / Q000032:analysis; D009460:Neurologic Examination; D009468:Neuromuscular Diseases / Q000473:pathology*
chemical_list: D015879:Myosin Subfragments