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...
Main Authors: | Kei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Toshiaki Tachibana, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-08-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1308 |
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