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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...
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| Опубликовано в: : | J Neuromuscul Dis |
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| Главные авторы: | , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
IOS Press
2015
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| Предметы: | |
| Online-ссылка: | 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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