TY - JOUR
T1 - A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency
AU - Deschauer, Marcus
AU - Chrzanowska-Lightowlers, Zofia M.A.
AU - Biekmann, Eckhard
AU - Pourfarzam, Morteza
AU - Taylor, Robert W.
AU - Turnbull, Douglass M.
AU - Zierz, Stephan
N1 - Funding Information:
We thank Professor J.M. Schroeder (Department of Neuropathology, University of Aachen) for histological investigation of the muscle biopsy. M.D. was supported by a fellowship from the European Neurological Society. Z.C.-L. is supported by a RCD Fellowship from the Wellcome Trust. D.M.T and R.W.T are supported by the Wellcome Trust and the Muscular Dystrophy Campaign.
PY - 2003/6/1
Y1 - 2003/6/1
N2 - We report the first splice junction mutation to be described in the carnitine palmitoyltransferase (CPT) 2 gene in a patient with the muscle form of CPT II deficiency. The patient, a 25-year-old man, suffered from attacks of myalgia and muscle weakness in early adult life. There was biochemical evidence of CPT II deficiency. Molecular genetic analysis revealed the common S113L mutation on one allele whilst a novel mutation at the splice donor junction in intron 3 was identified on the other allele. Sequencing of reverse transcription polymerase chain reaction (RT-PCR) products clearly demonstrated that this mutation causes the skipping of exon 3, thus establishing its pathogenic role.
AB - We report the first splice junction mutation to be described in the carnitine palmitoyltransferase (CPT) 2 gene in a patient with the muscle form of CPT II deficiency. The patient, a 25-year-old man, suffered from attacks of myalgia and muscle weakness in early adult life. There was biochemical evidence of CPT II deficiency. Molecular genetic analysis revealed the common S113L mutation on one allele whilst a novel mutation at the splice donor junction in intron 3 was identified on the other allele. Sequencing of reverse transcription polymerase chain reaction (RT-PCR) products clearly demonstrated that this mutation causes the skipping of exon 3, thus establishing its pathogenic role.
KW - Carnitine palmitoyltransferase II deficiency
KW - Molecular analysis
KW - Splice junction mutation
UR - http://www.scopus.com/inward/record.url?scp=0038278499&partnerID=8YFLogxK
U2 - 10.1016/S1096-7192(03)00067-2
DO - 10.1016/S1096-7192(03)00067-2
M3 - Article
C2 - 12809643
AN - SCOPUS:0038278499
SN - 1096-7192
VL - 79
SP - 124
EP - 128
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 2
ER -
