TY  - GEN
AU  - Sáenz,A
AU  - Leturcq,F
AU  - Cobo,A M
AU  - Poza,J J
AU  - Ferrer,X
AU  - Otaegui,D
AU  - Camaño,P
AU  - Urtasun,M
AU  - Vílchez,J
AU  - Gutiérrez-Rivas,E
AU  - Emparanza,J
AU  - Merlini,L
AU  - Paisán,C
AU  - Goicoechea,M
AU  - Blázquez,L
AU  - Eymard,B
AU  - Lochmuller,H
AU  - Walter,M
AU  - Bonnemann,C
AU  - Figarella-Branger,D
AU  - Kaplan,J C
AU  - Urtizberea,J A
AU  - Martí-Massó,J F
AU  - López de Munain,A
TI  - LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene
SN  - 1460-2156
PY  - 2005///0420
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Bayes Theorem
KW  - Blotting, Western
KW  - Calpain
KW  - genetics
KW  - Child
KW  - DNA Mutational Analysis
KW  - methods
KW  - Disease Progression
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Isoenzymes
KW  - Male
KW  - Middle Aged
KW  - Muscle Proteins
KW  - Muscular Dystrophies, Limb-Girdle
KW  - diagnosis
KW  - Mutation, Missense
KW  - Phenotype
KW  - Retrospective Studies
N1  - Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/brain/awh408
ER  -