LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 1B

LMNA GENE ANALYSIS

Limb girdle muscular dystrophy type 1B (LGMD1B), is a relatively rare inherited autosomal dominant form of LGMD often characterized by late onset, progressive proximal muscle weakness associated with cardiac complications such as atrioventricular conduction blocks (AVB), dilated cardiomyopathy, and sudden death caused by arrhythmias (Muchir et al 2000 Hum Mol Genet 9, 1453-1459).

LGMD1B is caused by variants in the LMNA gene, and there is considerable phenotypic overlap with the laminopathies,  dilated cardiomyopathy and the autosomal dominant form of Emery-Dreyfus Muscular Dystrophy.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.