Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan- Riley-Ruvalcaba syndrome (BRRS)

American Journal of Medical Genetics

Volumn 83, Issue 1, 1999, Pages 3-5

  Otto, Lisa R ^a   Boriack, Richard L ^a   Marsh, Debbie J ^b   Kum, Jennifer B ^b   Eng, Charis ^b   Burlina, Alberto B ^c   Bennett, Michael J ^a,d  

^a CHILDREN S MEDICAL CENTER   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF PADOVA   (Italy)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Bannayan Riley Ruvalcaba syndrome; Bannayan Zonana syndrome; Carnitine deficiency; Mitochondria; Myopathy; Ruvalcaba Riley Smith syndrome; Ruvalcaba Myhre Smith syndrome

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; CARNITINE; LONG CHAIN FATTY ACID;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARNITINE DEFICIENCY; CASE REPORT; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE SEGREGATION; GERM LINE; HEMANGIOMA; HUMAN; LIPID TRANSPORT; LIPOMA; MACROCEPHALY; MISSENSE MUTATION; MULTIGENE FAMILY; MUSCLE HYPOTONIA; MYOPATHY; PRIORITY JOURNAL; SKIN FIBROBLAST; SYNDROME;

3-HYDROXYACYL COA DEHYDROGENASES; CARDIOMYOPATHIES; CHILD, PRESCHOOL; CITRATE (SI)-SYNTHASE; FEMALE; FIBROBLASTS; GENES, DOMINANT; HUMANS; LIPID METABOLISM; MUTATION, MISSENSE; PHOSPHORIC MONOESTER HYDROLASES; PTEN PHOSPHOHYDROLASE; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 0033525446     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990305)83:1<3::AID-AJMG2>3.0.CO;2-K     Document Type: Article

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