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  • Human LMNA wild-type allele is located within 1q22 and is approximately 25 kb in length. This allele, which encodes prelamin-A/C protein, plays a role in nuclear stability and chromatin structure. Mutations in the LMNA gene are associated with Charcot-Marie-Tooth disease, type 2B1, Hutchinson-Gilford progeria syndrome, Emery-Dreifuss muscular dystrophy, Malouf syndrome, autosomal dominant familial partial lipodystrophy type 2, lethal restrictive dermopathy, autosomal dominant limb girdle muscular dystrophy 1B and autosomal dominant dilated cardiomyopathy 1A..
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