LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Muscular Dystrophies, Limb-Girdle ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58327533
rs58327533
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0686353
Disease:
Muscular Dystrophies, Limb-Girdle 		0.010 GeneticVariation BEFREE The mutation R25G in exon 1 of LMNA gene we reported here in a Chinese family had a phenotype of malignant arrhythmia and mild LGMD, suggesting that patients with familial DCM, conduction system defects and skeletal muscle dystrophy should be screened by genetic testing for the LMNA gene. 20092787 2009