Condition: Charcot-Marie-Tooth disease, Type 2B1
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.