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

Internet

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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