Variant: rs121912496 

    present in Gene: LMNA
    present in Chromosome: 1
    Position on Chromosome: 156134910
    Alleles of this Variant: C/G;T

rs121912496 in LMNA gene and Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) PMID 18551513 2008 De novo LMNA mutations cause a new form of congenital muscular dystrophy.

PMID 20886652 2010 "Two children with ""dropped head"" syndrome due to lamin A/C mutations."

PMID 22431096 2012 Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

PMID 20848652 2011 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

rs121912496 in LMNA gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 24508248 2014 Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

PMID 18551513 2008 De novo LMNA mutations cause a new form of congenital muscular dystrophy.

PMID 20848652 2011 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

PMID 24806962 2014 Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.

PMID 26098624 2015 Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.

PMID 21632249 2011 Inflammatory changes in infantile-onset LMNA-associated myopathy.

PMID 24656463 2014 Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations.

PMID 20886652 2010 "Two children with ""dropped head"" syndrome due to lamin A/C mutations."

rs121912496 in LMNA gene and MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) PMID 18551513 2008 De novo LMNA mutations cause a new form of congenital muscular dystrophy.