Article
Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.
American journal of medical genetics. Part A - 1 Jun 2020
Hayashi Takaaki, Hosono Katsuhiro, Kubo Akiko, Kurata Kentaro, Katagiri Satoshi, Mizobuchi Kei, Kurai Minehiro, Mamiya Norihito, Kondo Mineo, Tachibana Toshiaki, Saitsu Hirotomo, Ogata Tsutomu, Nakano Tadashi, Hotta Yoshihiro
Abstract excerpt
Mucolipidosis type IV (MLIV) is an autosomal recessively inherited lysosomal storage disorder characterized by progressive psychomotor delay and retinal degeneration that is associated with biallelic variants in the MCOLN1 gene. The gene, which is expressed in late endosomes and lysosomes of various tissue cells, encodes the transient receptor potential channel mucolipin 1 consisting of six transmembrane domains....
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