Causes Limb girdle muscular dystrophy 1B (LGMD1B)

LGMD1B is caused by a mutation in the Lamin A/C gene, which gives instructions to produce a protein important to the muscle fibres.

Mutations in the Lamin A/C gene also cause autosomal dominant and recessive Emery-Dreifuss muscular dystrophy, a congenital muscular dystrophy, an isolated cardiomyopathy, an autosomal recessive peripheral neuropathy (Charcot–Marie–Tooth disorder type 2B1) and other rare unusual conditions with no major muscle involvement (lipodystrophy, Hutchinson-Gilford Progeria and mandibuloacral dysplasia).

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