Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. [electronic resource]
Producer: 20141217Description: 775-9 p. digitalISSN:- 1097-4598
- Adolescent
- Bulbar Palsy, Progressive -- diet therapy
- Child
- Child, Preschool
- DNA Mutational Analysis
- Disease Progression
- Family Health
- Female
- Genetic Linkage
- Hearing Loss, Sensorineural -- diet therapy
- Humans
- Male
- Mutation, Missense -- genetics
- Neurologic Examination
- Receptors, G-Protein-Coupled -- genetics
- Riboflavin -- administration & dosage
- Sural Nerve -- pathology
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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