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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| Format: | Book |
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Pediatric Neurology Briefs Publishers,
2010-05-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 1043-3155 2166-6482 10.15844/pedneurbriefs-24-5-10 |