Cargando…

PMM2 -CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India

Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy. The patient, a 12-year-old girl born to healthy consanguineous parents,...

Descripción completa

Detalles Bibliográficos
Autores principales: Sreedevi, N., Swapna, N., Maruthy, Santosh, Meghavathi, H.S., Sylvester, Charles
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234699/
https://www.ncbi.nlm.nih.gov/pubmed/37274081
http://dx.doi.org/10.1055/s-0043-1769494