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'Cap myopathy': case report of a family
Service de Neuropédiatrie, Centre hospitalier régional universitaire et faculté de médecine, Lille, France.
Service d'Anatomie Pathologique, Centre hospitalier régional universitaire et faculté de médecine, Lille, France.
Laboratoire de Biopathologie Neuromusculaire, JE 2053, Centre hospitalier universitaire et faculté de médecine de La Timone, Marseille, France.
Service de réanimation pédiatrique, Hôpital Raymond-Poincaré, Garches, France.
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2006 (English)In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 16, no 4, 277-281 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Elsevier, 2006. Vol. 16, no 4, 277-281 p.
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Medical sciences
URN: urn:nbn:se:his:diva-11975DOI: 10.1016/j.nmd.2006.01.014ISI: 000237262800008PubMedID: 16531045ScopusID: 2-s2.0-33646487420OAI: oai:DiVA.org:his-11975DiVA: diva2:907014
Available from: 2016-02-25 Created: 2016-02-25 Last updated: 2016-03-04Bibliographically approved

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Tajsharghi, H
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