MITOCHONDRIAL MYOPATHY WITH DYSTROPHIC FEATURES DUE TO A NOVEL MUTATION IN THE MTTM GENE

INTRODUCTION: A 61-year-old woman with a five-year history of progressive muscle weakness and atrophy had a muscle biopsy characterized by a combination of dystrophic features (necrotic fibers and endomysial fibrosis) and mitochondrial alterations [ragged-red cytochrome c oxidase (COX)-negative fibe...

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Main Authors: PEVERELLI, LORENZO, GOLD, CARL A., NAINI, ALI B., TANJI, KURENAI, AKMAN, H. ORHAN, HIRANO, MICHIO, DIMAURO, SALVATORE
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4107085/
https://ncbi.nlm.nih.gov/pubmed/24711008
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.24262
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