A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America

Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with storage oflipofuscin-like lipopigments in cerebral neurons and peripheraltissues. Mutations in CLN8 gene causing epilepsy progressivewith mental retardation (EPMR) of Scandinavia and late infan-tile...

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Detalles Bibliográficos
Autores principales: Pesaola, Favio, Sismondi, Inés Adriana, Guelbert, Norberto, Kohan, Romina, Carabelos, Noelia, Alonso, Graciela, Pons, Patricia, Oller Ramírez, Ana María, Noher de Halac, Rita Inés
Formato: conferenceObject
Lenguaje:Inglés
Publicado: 2021
Materias:
Neuronal ceroid lipofuscinoses
Cln8
Validation-new mutations
Bioinformatics
Acceso en línea:http://hdl.handle.net/11086/21728
Aporte de:
Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba
Descripción
Sumario:Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with storage oflipofuscin-like lipopigments in cerebral neurons and peripheraltissues. Mutations in CLN8 gene causing epilepsy progressivewith mental retardation (EPMR) of Scandinavia and late infan-tile variant (vLI) phenotype in other countries had not yet beendescribed in Latin America. The change p.Pro229Ala, found inthe DNA of 2 individuals from Argentina and Mexico, was notvalidated as a mutation.

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