'Cap myopathy' : Case report of a family

J.M. Cuisset, C.A. Maurage, J.F. Pellissier, A. Barois, J.A. Urtizberea, Nigel Laing, H. Tajsharghi, L. Vallee

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)

Abstract

We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed with a severe nemaline myopathy at age 4 years. A muscle biopsy performed on both siblings revealed histological and ultrastructural features of 'cap myopathy'. This case report suggests that 'cap myopathy' and some cases of nemaline myopathy with neonatal onset might be two phenotypic expressions of the same genetic disorder. These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis. (C) 2006 Elsevier B.V. All rights reserved.
Original languageEnglish
Pages (from-to)277-281
JournalNeuromuscular Disorders
Volume16
Issue number4
DOIs
Publication statusPublished - 2006

Fingerprint

Dive into the research topics of ''Cap myopathy' : Case report of a family'. Together they form a unique fingerprint.

Cite this