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'Cap myopathy' :
'Cap myopathy' : case report of a family
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- Cuisset, J. M. (författare)
- Service de Neuropédiatrie, Centre hospitalier régional universitaire et faculté de médecine, Lille, France
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- Maurage, C. A. (författare)
- Service d'Anatomie Pathologique, Centre hospitalier régional universitaire et faculté de médecine, Lille, France
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- Pellissier, J. F. (författare)
- Laboratoire de Biopathologie Neuromusculaire, JE 2053, Centre hospitalier universitaire et faculté de médecine de La Timone, Marseille, France
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- Barois, A. (författare)
- Service de réanimation pédiatrique, Hôpital Raymond-Poincaré, Garches, France
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- Urtizberea, J. A. (författare)
- Institut de Myologie, Hôpital Pitié-Salpétrière, Paris, France
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- Laing, N. (författare)
- Center for neuromuscular and neurological disorders, Australian neuromuscular research institute, University of Western Australia, Nedlands, WA, Australia
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- Tajsharghi, H (författare)
- Department of pathology, Sahlgrenska University Hospital, Göteborg, Sweden
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- Vallée, L. (författare)
- Service de Neuropédiatrie, Centre hospitalier régional universitaire et faculté de médecine, Lille, France
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(creator_code:org_t)
- Institute of Information Science, 2006
- 2006
- Engelska.
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Ingår i: Neuromuscular Disorders. - : Institute of Information Science. - 0960-8966 .- 1873-2364. ; 16:4, s. 277-281
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- Medical sciences
- Medicin
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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