title: A TPM3 mutation causing cap myopathy.
abstract: Cap disease is a rare congenital myopathy associated with skeletal malformations and respiratory involvement. Abnormally arranged myofibrils taking the appearance of a "cap" are the morphological hallmark of this entity. We report a case of cap disease concerning a 42-year-old man, without any family history and presenting a p.Arg168His mutation on the TPM3 gene. His first biopsy at 7years had only shown selective type I hypotrophy. Mutations of TPM3 gene have been found in nemaline myopathy, congenital fiber type disproportion, but never before in cap disease.
authors: Department of Anatomic Pathology and Neuropathology, C.H.U. Timone, Marseille, France. Andre.MauesDePaula@ap-hm.fr
authors: Andre Maues
authors: AM
authors: De Paula
authors: Jerome
authors: J
authors: Franques
authors: Carla
authors: C
authors: Fernandez
authors: Nicole
authors: N
authors: Monnier
authors: Joel
authors: J
authors: Lunardi
authors: Jean-François
authors: JF
authors: Pellissier
authors: Dominique
authors: D
authors: Figarella-Branger
authors: Jean
authors: J
authors: Pouget
mesh_terms: D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D014335:Tropomyosin / Q000235:genetics*; D044465:White People
chemical_list: C498783:TPM3 protein, human; D014335:Tropomyosin