Published 2010 | Version v1.0.0
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Mitochondrial Encephalocardio-Myopathy with Neonatal Hypotonia and TMEM70 Mutation

Abstract

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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PNB-24-39-b

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Created
2010
When the item was originally created.