The natural history of infantile neuroaxonal dystrophy

The natural history of infantile neuroaxonal dystrophy

Abstract Background Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-independent phospholipase A2. Objective We aim to outline the natura...

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Bibliographic Details
Main Authors: Fadie D. Altuame, Gretchen Foskett, Paldeep S. Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A. Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem, Fowzan S. Alkuraya
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Infantile neuroaxonal dystrophy
INAD
Natural history
Molecular genetics
Online Access:http://link.springer.com/article/10.1186/s13023-020-01355-2

Internet

http://link.springer.com/article/10.1186/s13023-020-01355-2

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