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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,...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Georg Thieme Verlag KG
2023
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| 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 |