Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin.

Abstract excerpt

Mucolipidosis IV, a severe neurologic and ophthalmologic progressive disorder has a clinical range of onset between early childhood and adolescence entailing clinically severe, moderate, and mild forms, all of them majorly affecting Ashkenazi Jewish patients in an autosomal-recessive fashion owing to mutations in the MCOLN1 gene which encodes a transmembrane protein called mucolipin 1. We report on one of two...

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