Variant: rs59885338 

    present in Gene: LMNA
    present in Chromosome: 1
    Position on Chromosome: 156135268
    Alleles of this Variant: C/T

rs59885338 in LMNA gene and Charcot-Marie-Tooth disease, Type 2B1 PMID 17347251 2007 Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

PMID 18549403 2008 Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

PMID 11799477 2002 Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

PMID 17536044 2007 Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

PMID 14607793 2004 Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

rs59885338 in LMNA gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 17347251 2007 Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

PMID 18549403 2008 Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

PMID 14607793 2004 Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.