Persistently elevated CK and lysosomal storage myopathy associated with Mucolipin 1 defects

Mucolipidosis type IV (MLIV; OMIM 252650) is a rare autosomal recessive lysosomal storage disorder caused by bi-allelic pathogenic variants in the gene MCOLN1 (OMIM: 605248) [1]. This encodes mucolipin-1 (ML1), an endo-lysosomal transmembrane Ca++ channel involved in vesicular trafficking of lipids and proteins, exocytosis and fusion [2-4].

Source: Neuromuscular Disorders - December 21, 2020 Category: Neurology Authors: Alberto A. Zambon, Alexandra Lemaigre, Rahul Phadke, Stephanie Grunewald, Caroline Sewry, Anna Sarkozy, Emma Clement, Francesco Muntoni, Genomics England Research Consortium Tags: Case report Source Type: research