From the spinal cord to the muscle

Limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MM) are progressive, inherited muscular dystrophies caused DYSF gene mutations. LGMDR2 describes a predominantly proximal phenotype while an MM phenotype involves more distal weakness. It is not clear, for the purposes of clinical trials and drug licencing, if patients with each diagnosis should be separated or can be managed as one disease. The aim of this investigation was to determine if MM and LGMDR2 are distinct clinical entities that require separation for clinical trials.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: U. Moore, H. Gordish, J. D íaz Maneraz, M. James, A. Mayhew, M. Guglieri, S. Spuler, J. Day, K. Jones, D. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, M. Yoshimura, E. Bravver, E. Pegoraro, J. Mendell, V. Straub Source Type: research