Two new mutations in the MTATP6 gene associated with Leigh syndrome

Neuropediatrics

Volumn 36, Issue 5, 2005, Pages 314-318

  Moslemi, A R ^a   Darin, N ^a   Tulinius, M ^a   Oldfors, A ^a   Holme, E ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

ATP synthase; Complex V; Leigh syndrome; MTATP6; mtDNA

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE (MAGNESIUM); ASPARTIC ACID; LEUCINE; MITOCHONDRIAL DNA; POLYPEPTIDE; PROLINE; STEROID; UBIDECARENONE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; BRAIN TUMOR; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; ENZYME ACTIVITY; FIBROBLAST; GENE; HUMAN; LABORATORY TEST; LACTIC ACIDOSIS; LEIGH DISEASE; MISSENSE MUTATION; MTATP6 GENE; MTATP8 GENE; MUSCLE MITOCHONDRION; MUSCLE TISSUE; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; HUMANS; LEIGH DISEASE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUTATION; RESPIRATION;

EID: 27144482439     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-872845     Document Type: Article

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