Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

Abstract Background Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 disease) to isolated adult‐onset retinal dystrophy. Clas...

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Bibliographic Details
Main Authors: Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann
Format: Article
Language:English
Published: Wiley 2024-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ataxia
CLN7
MFSD8
NCL7
neuronal ceroid lipofuscinosis
retinal degeneration
Online Access:https://doi.org/10.1002/mgg3.2505
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