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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Pubblicato in:J Neuropathol Exp Neurol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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Original Articles
Accesso online: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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