Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy

BACKGROUND: Infantile neuroaxonal dystrophy is an autosomal recessive neurological disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of vision, mental skills and muscular control, and other variable clinical signs. Pathogenic variants in the PLA2G6 gene, encoding...

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Detalles Bibliográficos
Autores principales: Rostampour, Dorsa, Zolfaghari, Mohammad Reza, Gholami, Milad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8906051/
https://www.ncbi.nlm.nih.gov/pubmed/35092705
http://dx.doi.org/10.1002/jcla.24253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8906051/
https://www.ncbi.nlm.nih.gov/pubmed/35092705
http://dx.doi.org/10.1002/jcla.24253

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