Limb girdle muscular dystrophies

Limb-Girdle Dystrophy 2B (LGMD2B) is an autosomal recessive muscle disease caused by mutations in the DYSF gene. Phenotype variability is often observed among patients. Here we report a large Brazilian family with six LGMD2B affected siblings born from first-degree cousins which was first ascertained in our center 25 years ago. They presented with a remarkable clinical variability, with the onset of symptoms ranging from 12 years of age and severe phenotype in one of them to 40 years old and mild muscle weakness in the older sister.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: L. Souza, J. Gurgel-Giannetti, G. Sampaio, J. Wang, M. Scliar, M. Zatz, M. Vainzof Source Type: research