The limb-girdle muscular dystrophies (LGMD) comprise a large group of genetic disorders that lead to shoulder and pelvic girdle muscle weakness. Although these disorders are grouped together based on phenotypic presentation, there is extensive genetic variability among them. The dysfunctional protein within each disorder may be found at any level of the muscle fiber structure. Mutations to proteins within the extracellular matrix, including collagen VI and laminin α2 proteins, can disrupt the normal basal lamina architecture and lead to muscle weakness in a limbgirdle distribution.1 We present an interesting case with a novel mutation in the laminin α2 (LAMA2) gene, which has not been reported previously; the patient has a mixed clinical phenotype without contractures.
