present in Gene: LMNA
present in Chromosome: 1
Position on Chromosome: 156115102
Alleles of this Variant: C/G;T
rs56793579 in
LMNA gene and
Cardiomyopathies
PMID 12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
PMID 20041886 2010 On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances.