A TPM3 mutation causing cap myopathy.
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.
De Paula
Andre Maues
AM
Department of Anatomic Pathology and Neuropathology, C.H.U. Timone, Marseille, France. Andre.MauesDePaula@ap-hm.fr
Franques
Jerome
J
Fernandez
Carla
C
Monnier
Nicole
N
Lunardi
Joel
J
Pellissier
Jean-François
JF
Figarella-Branger
Dominique
D
Pouget
Jean
J
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
C498783:TPM3 protein, human; D014335:Tropomyosin