TY  - GEN
AU  - Negrão,L
AU  - Matos,A
AU  - Geraldo,A
AU  - Rebelo,O
TI  - Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene
SN  - 1128-2460
PY  - 2011///1129
KW  - Connectin
KW  - DNA Mutational Analysis
KW  - Genes, Recessive
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Muscle Proteins
KW  - genetics
KW  - Muscular Dystrophies, Limb-Girdle
KW  - diagnosis
KW  - Mutation
KW  - Portugal
N1  - Publication Type: Case Reports; Journal Article
ER  -