Article
Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.
Brain & development - 1 Sept 2016
Shiihara Takashi, Watanabe Mio, Moriyama Kengo, Maruyama Yasuhiro, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Uematsu Mitsugu, Sameshima Kiyoko
Abstract excerpt
BACKGROUND: Mucolipidosis IV (MLIV; OMIM #252650) is an autosomal recessive lysosomal storage disorder, frequently observed in the Ashkenazi Jewish population. MLIV typically results in intellectual disability, corneal opacities, and delayed motor milestones during infancy, with a relatively static course. To date, reports of MLIV in other ethnic groups have been sparse. PATIENT: The present study is a case...
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