Journal of the peripheral nervous system : JPNSHumansHeterozygoteMembrane Transport ProteinsPedigreeReceptors
A Case of Retinopathy-Sensory Neuropathy Syndrome With a Novel Compound Heterozygous FLVCR1 Variant.
Yumiko Nakano, Yusuke Fukui, Kentaro Deguchi, Chika Matsuoka, Tomohito Kawano, Yuki Taira, Ayaka Matsuo, Yosuke Osakada, Taijun Yunoki, Emi Nomura, Mami Takemoto, Ryuta Morihara, Toru Yamashita, Hiroyuki Ishiura
Published: 202510.1111/jns.70082
Abstract
BACKGROUND AND AIMS: Retinopathy-sensory neuropathy syndrome (RETSNS), also known as posterior column ataxia with retinitis pigmentosa (PCARP), is a rare neurodegenerative disorder that is caused by biallelic pathogenic variants in FLVCR1. Here, we r…
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