Last update 01 Nov 2024

Muscular Dystrophy, Congenital, Lmna-Related

Basic Info

Synonyms
Congenital muscular dystrophy due to LMNA (lamin A/C) mutation, Congenital muscular dystrophy due to LMNA mutation, Congenital muscular dystrophy due to lamin A/C mutation
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Introduction
An autosomal recessive muscular dystrophy caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. Limb-girdle muscular dystrophy type 1B and Emery-Dreifuss muscular dystrophy-2 are allelic disorders with overlapping phenotypes.

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