P.245Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

We report the morphological, ultrastructural and western blot analysis of 7 patients from six families carrying pathological variants in PLEC1: 3 with LGMD, 1 with LGMD+EB, 1 with EB+CMD and 2 with diffuse weakness. Skeletal muscle biopsies were performed in the seven patients; six adult patients (20 to 59 years of age; 3M/3F) and one female child (1 year old).

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: M. Beuvin, E. Lac ène, C. Labasse, G. Brochier, A. Madelaine, R. Ben Yaou, T. Stojkovic, G. Sole, R. Juntas-Morales, M. Martin-Negrier, F. Duval, I. Nelson, J. Nectoux, F. Leturcq, M. Cossée, D. Sternberg, B. Eymard, G. Bonne, T. Evangelista, N. Romero Source Type: research