Журнал клинических случаев

A Mutation in Lamin A/C Gene Previously Known to Cause Emery-Driefuss Muscular Dystrophy Causing A Phenotype of Limb Girdle Muscular Dystrophy Type 1B

Abstract

Albi J Chalissery, Tudor Munteanu, Yvonne Langan, Francesca Brett and Janice Redmond

Mutations in the lamin protein(found in the nuclear envelope) known to cause different allelic disorders including limb girdle muscular dystrophies (LGMD) and Emery-Dreifuss muscular dystrophy (EDMD). LGMDs are a heterogeneous group of disorders with progressive proximal muscle weakness in an autosomal inheritance pattern. LGMD type 1B is a disorder secondary to a mutation in the gene encoding Lamin A/C protein in the nuclear envelope. We report a heterozygous mutation (c.148C>T mutation) in the lamin A/C gene causing LGMD type 1B in a family. This mutation was previously reported to cause EDMD. Repeated muscle biopsies and using ever advancing molecular genetics assisted in establishing the diagnosis. Our case demonstrates the need for pursing investigations as cardiac involvement and sudden death is common in this group.