Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

Deschauer, M

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. [electronic resource] - Journal of neurology Jun 2007 - 797-802 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0340-5354

10.1007/s00415-006-0447-x doi


Adolescent
Adult
Age of Onset
Aged
Child
Cohort Studies
DNA Mutational Analysis
Disease Progression
Europe
Female
Gene Frequency
Genetic Heterogeneity
Genetic Predisposition to Disease--ethnology
Genetic Testing
Genotype
Glycogen Phosphorylase, Muscle Form--genetics
Glycogen Storage Disease Type V--enzymology
Humans
Male
Middle Aged
Muscle, Skeletal--enzymology
Mutation, Missense--genetics
Phenotype
Polymorphism, Genetic