Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Clinical Genetics

Volumn 82, Issue 3, 2012, Pages 232-239

  Fanin, M ^a   Anichini, A ^a   Cassandrini, D ^b   Fiorillo, C ^b   Scapolan, S ^c   Minetti, C ^c   Cassanello, M ^c   Donati, M A ^d   Siciliano, G ^e   D'Amico, A ^f   Lilliu, F ^g   Bruno, C ^c   Angelini, C ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e UNIVERSITY OF PISA   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

Carnitine palmitoyl transferase; CPT2; Genotype; Phenotype correlations; Symptomatic heterozygotes

Indexed keywords

ACYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE II; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE FREQUENCY; GENOTYPING TECHNIQUE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE; MUSCLE BIOPSY; MUSCLE WEAKNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SYMPTOM;

ADULT; ALLELES; CARNITINE O-PALMITOYLTRANSFERASE; CHILD, PRESCHOOL; GENETIC ASSOCIATION STUDIES; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; METABOLISM, INBORN ERRORS; MIDDLE AGED; MUSCLE, SKELETAL; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 84865073014     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01786.x     Document Type: Article

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