Article
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Metabolic brain disease - 1 Jun 2015
Mirabelli-Badenier Marisol, Severino Mariasavina, Tappino Barbara, Tortora Domenico, Camia Francesca, Zanaboni Clelia, Brera Fabia, Priolo Enrico, Rossi Andrea, Biancheri Roberta, Di Rocco Maja, Filocamo Mirella
Abstract excerpt
Mucolipidosis type IV (MLIV) is a very rare disorder of late endosome/lysosome transport, characterized by neurodevelopmental abnormalities and progressive visual impairment owing to corneal clouding and retinal dystrophy. Greater than 70 % of MLIV patients are of Ashkenazi Jewish ancestry. Here we report a novel MCOLN1double mutant allele [c.395_397delCTG;c.468_474dupTTGGACC] which introduces a premature stop...
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