Mitochondrial Encephalocardio-Myopathy with Neonatal Hypotonia and TMEM70 Mutation

J Gordon Millichap

doi:10.15844/pedneurbriefs-24-5-10

Mitochondrial Encephalocardio-Myopathy with Neonatal Hypotonia and TMEM70 Mutation

Pediatric Neurology Briefs

Volume 24 (2010): Issue 5

By: J Gordon Millichap

Open Access

|May 2010

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.

References

Honzík T Tesarová M Mayr JA Hansíková H Jesina P Bodamer O Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation Arch Dis Child 2010 Apr 95 4 296 301 10.1136/adc.2009.168096 20335238
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-24-5-10 | Journal eISSN: 2166-6482

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Language: English

Page range: 39 - 40

Published on: May 1, 2010

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

ATPase Deficiency,

CNS Impairment affects,

TMEM70 Deficiency

© 2010 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 24 (2010): Issue 5