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Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)
Congenital muscular dystrophy type 1A (MDC1A) is caused by recessive variants in laminin α2 (LAMA2). Patients have been found to have white matter signal abnormalities on magnetic resonance imaging (MRI) but rarely structural brain abnormalities. We describe the autopsy neuropathology in a 17-year-o...
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| 出版年: | J Neuropathol Exp Neurol |
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| 主要な著者: | , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7445049/ https://ncbi.nlm.nih.gov/pubmed/32827036 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jnen/nlaa062 |
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