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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Neuropathol Exp Neurol
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2020
Aiheet:
Original Articles
Linkit: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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