McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient

Author please supply a short abstract.

Saved in:
Bibliographic Details
Published in:Neuromuscular disorders : NMD 1999-05, Vol.9 (3), p.174-175
Main Authors: Rubio, Juan C, Martı́n, Miguel A, Garcı́a, Alberto, Campos, Yolanda, Cabello, Ana, Culebras, José M, Arenas, Joaquı́n
Format: Article
Language:English
Subjects:
Adult
Amino Acid Substitution
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Exercise intolerance
Glycine - genetics
Glycogen Storage Disease Type V - enzymology
Glycogen Storage Disease Type V - genetics
Homozygote
Humans
Male
McArdle's disease
Molecular genetics
Mutation, Missense
Myophosphorylase
Phosphorylases - genetics
Serine - genetics
Spain
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Author please supply a short abstract.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(98)00127-8