Article
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
Journal of medical genetics - 1 Feb 2004
Szigeti K, Wong L-J C, Perng C-L, Saifi G M, Eldin K, Adesina A M, Cass D L, Hirano M, Lupski J R, Scaglia F
Abstract excerpt
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by thymidine phosphorylase (TP) deficiency, resulting in severe gastrointestinal dysmotility and skeletal muscle abnormalities. A patient is reported with a classical MNGIE clinical presentation but without skeletal muscle involvement at morphological, enzymatic, or mitochondrial DNA level, though...
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