Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation

Canadian Journal of Neurological Sciences

Volumn 32, Issue 3, 2005, Pages 316-320

  Rafay, Mubeen F ^a   Murphy, E Gordon ^a   McGarry, J Denis ^c   Kaufmann, Petra ^d   DiMauro, Salvatore ^d   Tein, Ingrid ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

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

^d Hospital for Sick Children ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CASE REPORT; CELL CULTURE; CLINICAL FEATURE; DIZYGOTIC TWINS; ELECTROMYOGRAPHY; ENVIRONMENTAL FACTOR; ENZYME ACTIVITY; ENZYME ASSAY; FAMILY; FEMALE; HEREDITY; HETEROZYGOTE; HUMAN; ITALY; MUSCLE BIOPSY; MUSCLE STIFFNESS; MUSCLE WEAKNESS; MUTATION; MYALGIA; MYOGLOBINURIA; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKIN FIBROBLAST; THORAX RADIOGRAPHY;

EID: 24144474577     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100004194     Document Type: Article

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