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Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have been described. Clinical manifestations include s...

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Detalles Bibliográficos
Autores principales:	Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Stepien, Karolina M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348969/ https://www.ncbi.nlm.nih.gov/pubmed/32604955 http://dx.doi.org/10.3390/ijms21124564

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