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.
Department of Neurology, Hospitals Vall d'Hebron, Barcelona, Spain.
J
J
Gamez
R
R
Fernandez
C
C
Bruno
A L
AL
Andreu
C
C
Cervera
C
C
Navarro
S
S
Schwartz
S
S
Dimauro
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