Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency.
Acta Neuropathol
; 105(6): 537-42, 2003 Jun.
Article
en En
| MEDLINE
| ID: mdl-12734659
ABSTRACT
Limb girdle muscular dystrophy (LGMD) type 2B and distal Miyoshi myopathy (MM) are caused by mutations in a recently discovered mammalian gene coding for a skeletal muscle protein called dysferlin. The protein is normally expressed at the skeletal muscle level and absent or reduced in affected patients. We selected a clinically heterogeneous population of Italian myopathic patients with clinical evidence of myopathy and/or hyperCKemia, EMG myopathic pattern, and no alterations of the dystrophin-sarcoglycan complex. Calpain, merosin, emerin and caveolin were also tested and found normal in all patients. Dysferlin immunohistochemical and Western blot analyses allowed us to identify six patients with dysferlin deficiency one with distal myopathy, four with limb girdle myopathy and one with hyperCKemia. No apoptosis was found in any of the six muscle specimens, although expression of the pro-apoptotic Fas antigen was mildly increased in two cases. Inflammatory reactions were present in two of the six cases, but we found no evidence of immune-mediated processes.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas de la Membrana
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Proteínas Musculares
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Distrofias Musculares
Tipo de estudio:
Diagnostic_studies
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Evaluation_studies
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Prognostic_studies
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Acta Neuropathol
Año:
2003
Tipo del documento:
Article
País de afiliación:
Italia