Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Srour, Myriam

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