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Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy is a rare multisystemic autosomic recessive disorder characterized by: onset typically before the age of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal dysmotility; cachexia; peripheral neuropathy; and leucoencephalopath...

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Bibliografiske detaljer
Main Authors: Garone, Caterina, Tadesse, Saba, Hirano, Michio
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2011
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3212717/
https://ncbi.nlm.nih.gov/pubmed/21933806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awr245
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