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Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation

✍ Scribed by Michelangelo Mancuso; Silvio Ferraris; Yutaka Nishigaki; Gaetano Azan; Alessandro Mauro; Piero Sammarco; Sindu Krishna; Stacey K.H. Tay; Eduardo Bonilla; Stephen G. Romansky; Michio Hirano; Salvatore DiMauro


Book ID
119301569
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
134 KB
Volume
228
Category
Article
ISSN
0022-510X

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πŸ“œ SIMILAR VOLUMES


Late-onset distal myopathy with rimmed v
✍ Naoki Suzuki; Masashi Aoki; Hideki Mizuno; Yoshiaki Onodera; Toshiaki Takahashi; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 112 KB

## Abstract We report two brothers from a Japanese family with a late‐onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the __GNE__, dysferlin, caveolin 3, emerin, and lamin A/C gen