A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and in a protein domain related to dimer contact. These data further emphasize the importance of private mutations in McArdle's disease, some of which are associated with specific ethnic groups.
Gamez
J
J
Department of Neurology, Hospitals Vall d'Hebron, Barcelona, Spain.
Fernandez
R
R
Bruno
C
C
Andreu
A L
AL
Cervera
C
C
Navarro
C
C
Schwartz
S
S
Dimauro
S
S
D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology*; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013030:Spain
D024982:Glycogen Phosphorylase, Muscle Form