SURF1-associated leigh syndrome: A case series and novel mutations

Human Mutation

Volumn 33, Issue 8, 2012, Pages 1192-1200

  Lee, Inn Chi ^a,b,c   El Hattab, Ayman W ^d   Wang, Jing ^c   Li, Fang Yuan ^c   Weng, Shao Wen ^c,e   Craigen, William J ^c   Wong, Lee Jun C ^c  

^a CHUNG SHAN MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF MISSOURI   (United States)

^e CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Atypical Leigh syndrome; Complex IV assembly; Complex IV deficiency; Electron transport chain; Mitochondrial disorders

Indexed keywords

CYTOCHROME C OXIDASE; PROTEIN SURF1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE STUDY; CHILD; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LEIGH DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT COMPLEX IV; EXONS; FEMALE; HUMANS; INFANT; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; YOUNG ADULT;

EID: 84863874260     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22095     Document Type: Article

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