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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Gepubliceerd in:J Neuropathol Exp Neurol
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2020
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Original Articles
Online toegang: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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