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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發表在:J Neuropathol Exp Neurol
Main Authors: Jayakody, Himali, Zarei, Sanam, Nguyen, Huy, Dalton, Joline, Chen, Kelly, Hudgins, Louanne, Day, John, Withrow, Kara, Pandya, Arti, Teasley, Jean, Dobyns, William B, Mathews, Katherine D, Moore, Steven A
格式: Artigo
語言:Inglês
出版: Oxford University Press 2020
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Original Articles
在線閱讀: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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