Article
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.
Genetic testing and molecular biomarkers - 1 Jun 2018
Carvalho Alzira Alves de Siqueira, Lacene Emmanuele, Brochier Guy, Labasse Clémance, Madelaine Angeline, Silva Vinicius Gomes da, Corazzini Roseli, Papadopoulos Konstantinos, Behin Anthony, Laforêt Pascal, Stojkovic Tania, Eymard Bruno, Fardeau Michel, Romero Norma
Abstract excerpt
BACKGROUND: Protein aggregate myopathies (PAM) represent a group of familial or sporadic neuromuscular conditions with marked clinical and genetic heterogeneity that occur in children and adults. Familial PAM includes myofibrillar myopathies defined by the presence of desmin-positive protein aggregates and degenerative intermyofibrillar network changes. PAM is often caused by dysfunctional genes, such as DES,...
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