Publications by authors named "Mahdieh Eslami Ardakani"
Can J Neurol Sci
January 2025
Article Synopsis
- Mucolipidosis type IV (MLIV) is a rare genetic disorder leading to severe intellectual disability, motor delays, and vision problems due to mutations in the mucolipin-1 gene, affecting lysosomal function.
- A family of four Iranian siblings exhibited cognitive decline, vision and motor issues, with MRI scans revealing brain abnormalities, leading to a diagnosis of MLIV.
- Whole-exome sequencing identified a new genetic variant linked to MLIV, highlighting the complexity of diagnosing this condition and suggesting that this variant may be connected to older onset ages for symptoms.
