Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. [electronic resource]
- Muscle & nerve Nov 2014
- 775-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1097-4598
10.1002/mus.24224 doi
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