A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
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3. Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization;Cameron;Mitochondrion,2011
4. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy;Cízková;Nat. Genet.,2008
5. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12;De Meirleir;J. Med. Genet.,2004
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