Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation

Muscle and Nerve

Volumn 39, Issue 3, 2009, Pages 374-382

  Shchelochkov, Oleg ^a,c   Wong, Lee Jun ^a,b   Shaibani, Aziz ^b   Shinawi, Marwan ^a,c  

^a Department of Molecular and Human Genetics ^*  (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

ACADVL; Novel mutation; Recurrent rhabdomyolysis; Very long chain acyl CoA dehydrogenase; VLCAD

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; AZATHIOPRINE; CARNITINE; ETIRACETAM; INFLIXIMAB; LAMOTRIGINE; PREDNISONE;

ABDOMINAL TENDERNESS; ACADVL GENE; ADULT; ARTICLE; CASE REPORT; CHRONIC DISEASE; CLINICAL FEATURE; COMPLEX PARTIAL SEIZURE; DROWSINESS; DRUG WITHDRAWAL; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOGLYCEMIA; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYALGIA; MYOGLOBINURIA; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOLYSIS;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; CALCIUM CHANNEL BLOCKERS; CARNITINE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MUSCLE, SKELETAL; MUTATION; SUCCINATE DEHYDROGENASE; TRIAZINES; YOUNG ADULT;

EID: 62849126842     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21157     Document Type: Article

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