Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

Neuromuscular Disorders

Volumn 17, Issue 11-12, 2007, Pages 960-963

  Musumeci, Olimpia ^a   Aguennouz, Mohammed ^a   Comi, Giacomo Pietro ^b   Rodolico, Carmelo ^a   Autunno, Massimo ^a   Bordoni, Andreina ^b   Baratta, Silvia ^c   Taroni, Franco ^c   Vita, Giuseppe ^a   Toscano, Antonio ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

CPT2 deficiency; Metabolic myopathy; R631C mutation; Rhabdomyolysis

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOLYSIS; SCHOOL CHILD;

ADOLESCENT; ADULT; BIOPSY; CARNITINE O-PALMITOYLTRANSFERASE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; LIPID METABOLISM DISORDERS; MALE; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE;

EID: 36348996703     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.05.002     Document Type: Article

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