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Article

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

Molecular genetics & genomic medicine - 1 Aug 2020

Mizobuchi Kei, Hayashi Takaaki, Yoshitake Kazutoshi, Fujinami Kaoru, Tachibana Toshiaki, Tsunoda Kazushige, Iwata Takeshi, Nakano Tadashi

Abstract excerpt

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 biallelic CLN3 missense variants are not well elucidated. METHODS: We described a 26-year-old Japanese male patient with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32441891
DOI: 10.1002/mgg3.1308
PMCID: PMC7434607

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