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Digitale Medien

Familial megaconial myopathy: A real nosologic entity (1983)

Pellegrini, G. ; Moggio, M. ; Cheldi, A. ; [weitere]

Springer

Acta neuropathologica 59 (1983), S. 70-74

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Details

ISSN: 1432-0533

Schlagwort(e): Mitochondrial myopathy ; Giant mitochondria ; Familial mitochondrial myopathy

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Summary The most prominent ultrastructural feature of muscle tissue in two siblings with a childhood-onset myopathy was the presence of giant mitochondria of up to 4 μm in length. The mitochondria had no tendency to aggregate and kept their normal localization among the myofibrils. Such a megaconial myopathy was first described by Shy and Gonatas (1964), In our family two members had the disease and consanguinity between their parents was present. These data suggest that megaconial myopathy might be a real nosologic entity genetically transmitted as an autosomal recessive trait.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00690319

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