Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings

Abstract Background Biallelic CLN3 gene variants have been found in either juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02‐kb deletion variant homozygously. Clinical characteristics of patients with...

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Bibliographic Details
Main Authors: Kei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Toshiaki Tachibana, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
electroretinography
lysosomal storage disease
retina
transmission electron microscopy
whole‐exome and genome sequencing
Online Access:https://doi.org/10.1002/mgg3.1308

Internet

https://doi.org/10.1002/mgg3.1308

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