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

Background: 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. Objective: To report on 4 patients with LAMA2 gene mutations whose original clinical features...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Neuromuscul Dis
मुख्य लेखकों: Nelson, Isabelle, Stojkovic, Tanya, Allamand, Valérie, Leturcq, France, Bécane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B., Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: IOS Press 2015
विषय:
Research Report
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240538/
https://ncbi.nlm.nih.gov/pubmed/27858741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-150093
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