Mitochondrial encephalomyopathy due to a novel mutation in ACAD9

JAMA Neurology

Volumn 70, Issue 9, 2013, Pages 1177-1179

  Garone, Caterina ^a,b   Donati, Maria Alice ^c   Sacchini, Michele ^c   Garcia Diaz, Beatriz ^a   Bruno, Claudio ^d   Calvo, Sarah ^e,f,g   Mootha, Vamsi K ^e,f,g   DiMauro, Salvatore ^a  

^a Department of Neurology Columbia University Medical Center College of Physicians and Surgeons ^*  (United States)

^b UNIVERSITY OF TURIN   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ALANINE; LACTIC ACID; LEVOTHYROXINE SODIUM; RIBOFLAVIN; THYROTROPIN;

ABDOMINAL OBESITY; ACAD9 GENE; ADOLESCENT; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; ARTICLE; ATAXIA; BRADYKINESIA; BRADYLALIA; CASE REPORT; CELL PROLIFERATION; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DRUG MEGADOSE; EATING DISORDER; GENE; GENE IDENTIFICATION; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; HYPOTHYROIDISM; LACTATE BLOOD LEVEL; LIPID BLOOD LEVEL; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; PRIORITY JOURNAL; SCOLIOSIS; SPEECH DISORDER; THYROTROPIN BLOOD LEVEL; WESTERN BLOTTING;

EID: 84883769603     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.3197     Document Type: Article

References (10)

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