Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> 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. Disease data Classification Disease Synonyms Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency Mitochondrialna encefalo-kardio-miopatia z powodu niedoboru F1Fo ATP-azy Mitochondrialna encefalo-kardio-miopatia z powodu niedoboru kompleksu V mitochondrialnego łańcucha oddechowego Mitochondrialna encefalo-kardio-miopatia z powodu niedoboru syntazy ATP Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency ORPHA code 1194 OMIM code 614052 ICD10 code G71.3 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl