Mitochondrial Encephalocardio-Myopathy with Neonatal Hypotonia and TMEM70 Mutation

The course and metabolic profile of a novel mitochondrial disease with ATPase deficiency and mutation in the TMEM70 gene are described in a retrospective multisite survey of 25 patients (14 boys, 11 girls) from 7 European countries.

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Bibliografski detalji
Glavni autor: J Gordon Millichap (Autor)
Format: Knjiga
Izdano: Pediatric Neurology Briefs Publishers, 2010-05-01T00:00:00Z.
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