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A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis

Abstract Background Mucolipidosis type IV (MLIV) is a rare autosomal recessive lysosomal storage disorder due to biallelic pathogenic variants in the MCOLN1 gene. Its main impact is on the central nervous system, leading to severe psychomotor delays, progressive visual impairment, and characteristic...

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Principais autores: Mohaddese Mohsenipour, Parham Nejati, Teymoor Khosravi, Elham Alimoradi, Mohammad Salehi, Morteza Oladnabi, Reza Alibakhshi
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-12-01
Serier:BMC Medical Genomics
Fag:
Mucolipidosis type IV (MLIV)
Exome sequencing
Novel variant
Bioinformatics analysis
Molecular dynamics simulations
Iran
Online adgang:https://doi.org/10.1186/s12920-025-02271-9
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