SLC25A32 mutations and riboflavin-responsive exercise intolerance

New England Journal of Medicine

Volumn 374, Issue 8, 2016, Pages 795-797

  Schiff, Manuel ^a   Veauville Merllié, Alice ^b   Su, Chen Hsien ^c   Tzagoloff, Alexander ^c   Rak, Malgorzata ^a   De Baulny, Hélène Ogier ^a   Boutron, Audrey ^d   Smedts Walters, Hélène ^e   Romero, Norma B ^f   Rigal, Odile ^a   Rustin, Pierre ^a   Vianey Saban, Christine ^b   Acquaviva Bourdain, Cécile ^b  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c Columbia University ^*  (United States)

^d BICÊTRE HOSPITAL   (France)

^e CHILDREN S HOSPITAL OAKLAND   (United States)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVINE ADENINE NUCLEOTIDE; RIBOFLAVIN; CARRIER PROTEIN; SLC25A32 PROTEIN, HUMAN;

ADOLESCENT; CASE REPORT; ELECTRON TRANSPORT; EXERCISE TOLERANCE; FATTY ACID OXIDATION; FEMALE; FLX1 GENE; FUNGAL GENE; GENE; HAPLOINSUFFICIENCY; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; LETTER; MISSENSE MUTATION; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; NONHUMAN; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; SLC25A32 GENE; SUPPLEMENTATION; DEFICIENCY; DRUG EFFECTS; GENETICS; HETEROZYGOTE; MITOCHONDRIAL DISEASES; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

ADOLESCENT; EXERCISE TOLERANCE; FEMALE; HETEROZYGOTE; HUMANS; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION; RIBOFLAVIN;

EID: 84959420528     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc1513610     Document Type: Letter

References (5)

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