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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445049/
https://www.ncbi.nlm.nih.gov/pubmed/32827036
http://dx.doi.org/10.1093/jnen/nlaa062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445049/
https://www.ncbi.nlm.nih.gov/pubmed/32827036
http://dx.doi.org/10.1093/jnen/nlaa062

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