Mitochondrial myopathy associated with a novel mutation in mtDNA

A 6-year-old boy had progressive muscle weakness since age 4 and emotional problems diagnosed as Asperger syndrome. His mother and two older siblings are in good health and there is no family history of neuromuscular disorders. Muscle biopsy showed ragged-red and cytochrome c oxidase (COX)-negative...

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Huvudupphovsmän: Pancrudo, Jacklyn, Shanske, Sara, Coku, Jorida, Lu, J, Mardach, Rebecca, Akman, Orhan, Krishna, Sindu, Bonilla, Eduardo, DiMauro, Salvatore
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2007
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2699619/
https://ncbi.nlm.nih.gov/pubmed/17588757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2007.04.005
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