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Encephalocardiomyopathy, mitochondrial

MedGen UID:
865067
Concept ID:
C4016630
Finding
Synonym: ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL
 
OMIM®: 590095

Recent clinical studies

Etiology

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D
Hum Mutat 2018 Apr;39(4):563-578. Epub 2018 Feb 7 doi: 10.1002/humu.23398. PMID: 29314548Free PMC Article

Prognosis

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D
Hum Mutat 2018 Apr;39(4):563-578. Epub 2018 Feb 7 doi: 10.1002/humu.23398. PMID: 29314548Free PMC Article

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