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 (6) , Norma B. Romero (9)

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 CHU Pitié-Salpêtrière [AP-HP]
7 Physiopathologie et thérapie du muscle strié
8 Institut de Myologie
9 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.

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

Domaines: Génétique humaine; Biologie moléculaire

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⟩