TMEM70-related mitochondrial encephalo-cardio-myopathy

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TMEM70-related mitochondrial encephalo-cardio-myopathy

Synonyms: Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency | Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency | Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis hyperammonemia and 3-methylglutaconic aciduria.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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