Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.
We report on a Spanish family with myophosphorylase (EC 2.4.1.1) deficiency (McArdle's disease). The proband and his symptomatic sister were compound heterozygous for two novel mutations: a T-to-G transversion in exon 14 (c1722 T>G) that changes a tyrosine to a stop codon (Y573X), and a G-to-A transition in exon 15 (c1827 G>A) that disrupts the consensus signal at the donor splicing site. These findings further expand knowledge of the genetic bases of muscle glycogen phosphorylase deficiency.
Gámez
Josep
J
Centre d'Investigacions en Bioquimica i Biologia Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Rubio
Juan C
JC
Martín
Miguel A
MA
Fernández-Cadenas
Israel
I
Garcia-Arumi
Elena
E
Andreu
Antoni L
AL
Arenas
Joaquín
J
D000328:Adult; D000368:Aged; D017398:Alternative Splicing / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006003:Glycogen / Q000378:metabolism; D024982:Glycogen Phosphorylase, Muscle Form / Q000172:deficiency* / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics
D018389:Codon, Nonsense; D018388:Codon, Terminator; D022821:RNA Splice Sites; D006003:Glycogen; D024982:Glycogen Phosphorylase, Muscle Form