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

Abstract : 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.
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https://hal-amu.archives-ouvertes.fr/hal-01681760
Contributor : Christophe Beroud Connect in order to contact the contributor
Submitted on : Thursday, January 11, 2018 - 5:34:48 PM
Last modification on : Friday, May 20, 2022 - 11:06:28 AM

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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, IOS Press, 2015, 2 (3), pp.229 - 240. ⟨10.3233/JND-150093⟩. ⟨hal-01681760⟩

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