ECHS1 mutations cause combined respiratory chain deficiency resulting in leigh syndrome

Human Mutation

Volumn 36, Issue 2, 2015, Pages 232-239

  Sakai, Chika ^a   Yamaguchi, Seiji ^b   Sasaki, Masayuki ^c   Miyamoto, Yusaku ^d   Matsushima, Yuichi ^a,e   Goto, Yu ichi ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b SHIMANE UNIVERSITY   (Japan)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^d ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

Author keywords

Combined respiratory chain deficiency; ECHS1; Fatty acid oxidation disorder; Leigh syndrome

Indexed keywords

ENOYL COENZYME A HYDRATASE; GENOMIC DNA; MESSENGER RNA; MITOCHONDRIAL DNA; ENOYL COA HYDRATASE, SHORT CHAIN, 1, MITOCHONDRIAL, HUMAN;

ARTICLE; CASE REPORT; CHILD; COMBINED RESPIRATORY CHAIN DEFICIENCY; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHS1 GENE; ENZYME ACTIVITY; FATTY ACID OXIDATION; GENE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; LEIGH DISEASE; MALE; METABOLIC ACIDOSIS; MITOCHONDRIAL RESPIRATION; MUSCLE HYPOTONIA; MYOBLAST; NYSTAGMUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY CHAIN; SKELETAL MUSCLE; SPASTICITY; DEFICIENCY; GENETIC ASSOCIATION; GENETICS; NUCLEOTIDE SEQUENCE; TUMOR CELL LINE;

BASE SEQUENCE; CELL LINE, TUMOR; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENOYL-COA HYDRATASE; GENETIC ASSOCIATION STUDIES; HUMANS; LEIGH DISEASE; MALE;

EID: 84922011102     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22730     Document Type: Article

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