Article
Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect.
Genes - 28 Jan 2022
Al-Alawi Badriya, Harikrishna Beena, Al-Thihli Khalid, Al Zuhabi Sana, Ganesh Anuradha, Al Hashami Zainab, Al Dhamhmani Zeyana, Zadjali Razan, Al Riyami Nafila B, Zadjali Fahad
Abstract excerpt
Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (MCOLN1). It is a slowly progressive neurodevelopmental and neurodegenerative disorder causing severe psychomotor developmental delay and progressive visual impairment, which is often misdiagnosed as cerebral palsy. We describe six patients with MLIV from two Omani families with a...
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