Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

France Nelson , France Stojkovic , France Allamand , France Leturcq (1) , Henri-Marc Becane (2) , Dominique Babuty (3) , Annick Toutain (4) , Christophe Béroud (5) , Pascale Richard (6) , Norma B Romero (7) , Bruno Eymard (8) , Rabah Ben Yaou (8) , Gisele Bonne (9) , Norma B. Romero (10)

1 Service de biochimie et de génétique moléculaire [CHU Cochin]
2 UMR_S567 / UMR 8104 - Institut Cochin
3 Service de Cardiologie B
4 Service de génétique [Tours]
5 GMGF - Génétique Médicale et Génomique Fonctionnelle
6 Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire
7 Physiopathologie et thérapie du muscle strié
8 Institut de Myologie
9 Département de physiologie
10 Centre de recherche en myologie

Laminin α2 deficient congenital muscular dystrophy, caused by mutations in the LAMA2 gene, is characterized by early muscle weakness associated with abnormal white matter signal on cerebral MRI.

Keywords: Emery-Dreifuss muscular dystrophy; LAMA2; Laminin alpha 2; collagen VI-related myopathy; congenital muscular dystrophy; dilated cardiomyopathy

Domains: Life Sciences [q-bio]; Genetics; Human genetics; Life Sciences [q-bio]; Biochemistry, Molecular Biology; Molecular biology

France Nelson, France Stojkovic, France Allamand, France Leturcq, Henri-Marc Becane, et al.. Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases. Journal of Neuromuscular Diseases, 2015, 2 (3), pp.229 - 240. ⟨10.3233/JND-150093⟩. ⟨hal-01681760⟩