Quantitative neuroimaging in mucolipidosis type IV.

  title={Quantitative neuroimaging in mucolipidosis type IV.},
  author={Raphael Schiffmann and Jacqueline Mayfield and Caren C Swift and Igor Nestrasil},
  journal={Molecular genetics and metabolism},
  volume={111 2},
Mucolipidosis type IV (MLIV) is an autosomal recessive disorder resulting from mutations in the MCOLN1 gene. This gene encodes the endosomal/lysosomal transient receptor potential channel protein mucolipin-1 (TRPML1). Affected patients suffer from neurodevelopmental abnormalities and progressive retinal dystrophy. In a prospective natural history study we hypothesized the presence of an additional slow cerebral neurodegenerative process. We have recruited 5 patients, tested their… CONTINUE READING


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