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Article

Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.

Journal of clinical neuromuscular disease - 1 Jun 2022

Sanchez Jose A, Traub Rebecca, Trau Steven P, Howard James F

Abstract excerpt

ABSTRACT: We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She carries a homozygous mutation in the SLC52A2 gene, c.1016T>C (p.Leu339Pro). Her testing demonstrates a non-length-dependent axonal sensorimotor...

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PMID: 35608644
DOI: 10.1097/CND.0000000000000390

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