Article
Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.
Acta neurologica Belgica - 1 Aug 2024
Sabeghi Donya, InanlooRahatloo Kolsoum, Mirzadeh Hanieh S, Khani Marzieh, Shamshiri Hosein, Taghavi Tarannomsadat, Alavi Afagh, Boostani Reza, Tonekaboni Seyed Hassan, Akhondian Javad, Ebrahimi Masoomah, Salehi Najmeh, Nafissi Shahriar, Elahi Elahe
Abstract excerpt
INTRODUCTION: Riboflavin Transporter Deficiency (RTD) is a rare neurological disorder characterized by pontobulbar palsy, hearing loss, and motor cranial nerve involvement. SLC52A3 and SLC52A2 mutations are causes of RTD. SLC52A2 mutations are usually found in childhood onset cases. Fifteen Iranian RTD diagnosed patients without SLC52A2 mutations have been previously described. We aimed to identify causative...
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