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

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,...

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Bibliographic Details
Main Authors: N. Sreedevi, N. Swapna, Santosh Maruthy, H.S. Meghavathi, Charles Sylvester
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2023-06-01
Series:Global Medical Genetics
Subjects:
pmm2-cdg
cerebral palsy
mutation
south india
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1769494
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