Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

BACKGROUND: Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-parkinsonism are the main two subtypes. In this cohort, we...

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Detalles Bibliográficos
Autores principales: Dehnavi, Ali Zare, Bemanalizadeh, Maryam, Kahani, Seyyed Mohammad, Ashrafi, Mahmoud Reza, Rohani, Mohammad, Toosi, Mehran Beiraghi, Heidari, Morteza, Hosseinpour, Sareh, Amini, Behnam, Zokaei, Shaghayegh, Rezaei, Zahra, Aryan, Hajar, Amanat, Man, Vahidnezhad, Hassan, Mohammadi, Pouria, Garshasbi, Masoud, Tavasoli, Ali Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10320940/
https://www.ncbi.nlm.nih.gov/pubmed/37403138
http://dx.doi.org/10.1186/s13023-023-02780-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10320940/
https://www.ncbi.nlm.nih.gov/pubmed/37403138
http://dx.doi.org/10.1186/s13023-023-02780-9

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