Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: Expression of the molecular phenotype in cultured muscle cells

Journal of the Neurological Sciences

Volumn 136, Issue 1-2, 1996, Pages 178-181

  Villard, Jean ^a   Fischer, Andréas ^a   Mandon, Ginette ^b   Collombet, Jean Marc ^b   Taroni, Franco ^c   Mousson, Bénédicte ^b  

^a Hôpital Cantonal   (Switzerland)

^b HÔPITAL DEBROUSSE   (France)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

CPT II deficiency; Cultured muscle cells; Molecular and biochemical phenotype; Mutation; Myoglobinuria

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE II; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CELL CULTURE; CONTROLLED STUDY; ENZYME DEFICIENCY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; MUSCLE CELL; MUTATION; MYOGLOBINURIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RHABDOMYOLYSIS;

ADULT; BASE SEQUENCE; BLOTTING, WESTERN; CARNITINE O-PALMITOYLTRANSFERASE; CELLS, CULTURED; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MYOGLOBINURIA; PHENOTYPE; POLYMERASE CHAIN REACTION; RECURRENCE;

EID: 0029923538     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(95)00326-W     Document Type: Article

References (11)

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