Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Laboratory studies reveal defects of ox...

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Bibliografske podrobnosti
Main Authors: Hirano, M, Garcia-de-Yebenes, J, Jones, A C, Nishino, I, DiMauro, S, Carlo, J R, Bender, A N, Hahn, A F, Salberg, L M, Weeks, D E, Nygaard, T G
Format: Artigo
Jezik:Inglês
Izdano: 1998
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377320/
https://ncbi.nlm.nih.gov/pubmed/9683610
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