Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

Molecular Genetics and Metabolism

Volumn 113, Issue 3, 2014, Pages 207-212

  Burrage, Lindsay C ^a   Tang, Sha ^a   Wang, Jing ^a   Donti, Taraka R ^a   Walkiewicz, Magdalena ^a   Luchak, J Michael ^a   Chen, Li Chieh ^a   Schmitt, Eric S ^a   Niu, Zhiyv ^a   Erana, Rodrigo ^a   Hunter, Jill V ^a   Graham, Brett H ^a   Wong, Lee Jun ^a   Scaglia, Fernando ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

ATP6; Lactic acidosis; Mitochondria; Mitochondrial myopathy; MLASA

Indexed keywords

ALANINE AMINOTRANSFERASE; ANTICONVULSIVE AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; LACTIC ACID; MITOCHONDRIAL DNA; MT-ATP6 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANTICONVULSANT THERAPY; ARTICLE; BLOOD TRANSFUSION; BRAIN HEMORRHAGE; CASE REPORT; CELL FUNCTION; CELL RESPIRATION; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; ECHOGRAPHY; EEG ABNORMALITY; ELECTRON TRANSPORT; EPILEPSY; EVOKED BRAIN STEM AUDITORY RESPONSE; FAILURE TO THRIVE; FEEDING DIFFICULTY; GENE MUTATION; GENE SEQUENCE; HUMAN; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MALE; MELAS SYNDROME; MITOCHONDRIAL DNA ATP 6 GENE; MITOCHONDRIAL GENE; MITOCHONDRIAL GENOME; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL MYOPATHY LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA SYNDROME; MIXED HEARING LOSS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; SIDEROBLASTIC ANEMIA; STOMACH TUBE; WOLFF PARKINSON WHITE SYNDROME; ACIDOSIS, LACTIC; AMINO ACID SEQUENCE; ANEMIA, SIDEROBLASTIC; CELL CULTURE; GENETIC ASSOCIATION; GENETICS; MITOCHONDRIAL MYOPATHIES; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION;

ACIDOSIS, LACTIC; AMINO ACID SEQUENCE; ANEMIA, SIDEROBLASTIC; CELL RESPIRATION; CELLS, CULTURED; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MOLECULAR SEQUENCE DATA; POINT MUTATION;

EID: 84914160096     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.06.004     Document Type: Article

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