Limb girdle muscular dystrophies

Dysferlinopathies represent several pathologies caused by mutations in the DYSF gene. The two main phenotypes are Limb-girdle muscular dystrophy (LGMD) type 2B and distal Miyoshi's myopathy, but a proximodistal phenotype accounts for 6-35% of dysferlinopathies. The Acadians were French colonists who settled in the Canadian Maritimes and incurred the Great Deportation. Those who eluded capture remained mostly along the Maritime coastlines, preluding a higher regional prevalence of some recessive diseases.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: S. Bourque, D. Bourcier, J. Mamelona, J. Urtizberea, B. Brais, N. Crapoulet, A. Marrero Source Type: research