Mutations on this gene are responsible for congenital muscular dystrophy (CMD), overlapping syndromes<unk>  to mutation have also been reported. It is located on the long arm of the chromosome 1 (1q21-q22) and encodes the proteins lamin A and lamin C. These are structural proteins of intermediate filaments that provide stability and strength to the cells. They play an important role in the organization of chromatin and nuclear membrane. A-type lamins promote genetic stability by maintaining levels of proteins that have key roles in non-homologous end joining and homologous recombination, processes that repair DNA double-strand breaks.
LMNA-related congenital muscular dystrophy
Ullrich congenital muscular dystrophy
Fukuyama congenital muscular dystrophy
X-linked myotubular myopathy
Jokela type spinal muscular atrophy
X-linked spinal muscular atrophy type 2
Congenital muscular dystrophy
Madras motor neuron disease