Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update

Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epileptic seizures, vision loss, progressive movement...

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Detalles Bibliográficos
Autores principales: Baranzehi, Tayebeh, Kordi-Tamandani, Dor Mohammad, Najafi, Maryam, Khajeh, Ali, Schmidts, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9653935/
https://www.ncbi.nlm.nih.gov/pubmed/36362641
http://dx.doi.org/10.3390/jcm11216415

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