What question did this study set out to answer?

This research aims to investigate Brown-Vialetto-Van Laere syndrome in Indian patients and its molecular basis.

Ponto-bulbar Palsy, Sensorineural Hearing Loss, Tongue Fasciculation: Molecular Study & Review of Indian Cases

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Molecular study highlighted clinical features of Brown-Vialetto-Van Laere syndrome in Indian cases, suggesting riboflavin therapy may be effective.

This research aims to investigate Brown-Vialetto-Van Laere syndrome in Indian patients and its molecular basis.
Conducted a molecular study to confirm diagnosis
Detailed clinical features of Indian cases
Analyzed gene variations related to the syndrome
Confirmed diagnosis through molecular study
Highlighted recurrent pathogenic variation in SLC52A3 gene
Tabulated clinical features of Indian cases of BVVL

Singh et al. (2025) studied this question.

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Molecular study highlighted clinical features of Brown-Vialetto-Van Laere syndrome in Indian cases, suggesting riboflavin therapy may be effective.