Congenital myopathies 1 – nemaline

Nemaline myopathy type 6 (NEM6) is a rare congenital myopathy characterized by muscle weakness, exercise intolerance and muscle slowness, linked to autosomal dominant KBTBD13 gene mutations. Mutated KBTBD13 interacts improperly with thin filaments/actin provoking impaired muscle-relaxation kinetics. We performed a deep muscle phenotyping including immunohistochemistry and electron microscopy in 18 muscle biopsies of Dutch NEM6 patients in order to correlate muscle morphology with clinical phenotype and pathophysiological mechanisms.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: K. Bouman, B. K üsters, J. De Winter, C. Gllet, E. Van Kleef, L. Eshuis, G. Brochier, A. Madelaine, C. Labasse, C. Boulogne, B. Van Engelen, C. Ottenheijm, M. Olive, N. Romero, N. Voermans, E. Malfatti Source Type: research