Sáenz, A

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. [electronic resource] - Brain : a journal of neurology Apr 2005 - 732-42 p. digital

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

1460-2156

10.1093/brain/awh408 doi


Adolescent
Adult
Age of Onset
Bayes Theorem
Blotting, Western
Calpain--genetics
Child
DNA Mutational Analysis--methods
Disease Progression
Female
Genotype
Humans
Isoenzymes--genetics
Male
Middle Aged
Muscle Proteins--genetics
Muscular Dystrophies, Limb-Girdle--diagnosis
Mutation, Missense
Phenotype
Retrospective Studies