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

Muscle and Nerve

Volumn 50, Issue 5, 2014, Pages 775-779

  Srour, Myriam ^a,b   Putorti, Maria Lisa ^a   Schwartzentruber, Jeremy ^c   Bolduc, Véronique ^a   Shevell, Michael Israel ^b   Poulin, Chantal ^b   O'ferrall, Erin ^a   Buhas, Daniela ^b   Majewski, Jacek ^c   Brais, Bernard ^a  

^a MCGILL UNIVERSITY   (Canada)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

Brown Vialetto Van Laere syndrome; Neuronopathy; Riboflavin transporter; Sensorimotor neuropathy; SLC52A2

Indexed keywords

ACYLCARNITINE; LACTIC ACID; PHYTANIC ACID; PYRUVIC ACID; RIBOFLAVIN; VERY LONG CHAIN FATTY ACID; G PROTEIN COUPLED RECEPTOR; SLC52A2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; AREFLEXIA; ARM WEAKNESS; ARTICLE; ATAXIC GAIT; BROWN SYNDROME; CAUSE OF DEATH; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; FASCICULATION; FATTY ACID BLOOD LEVEL; GENE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LACTATE BLOOD LEVEL; LATENT PERIOD; MAPK15 GENE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MOTOR UNIT POTENTIAL; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NERVE CONDUCTION; NERVE POTENTIAL; ONSET AGE; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROPRIOCEPTION; PROTEIN URINE LEVEL; RESPIRATORY FAILURE; SCHOOL CHILD; SCOLIOSIS; SENSORIMOTOR NEUROPATHY; SENSORY NEUROPATHY; SLC52A2 GENE; TREATMENT DURATION; TREATMENT OUTCOME; TREATMENT RESPONSE; VIBRATION SENSE; VISUAL IMPAIRMENT; VITAMIN SUPPLEMENTATION; WALKING; YOUNG ADULT; ZYGOSITY; BLOOD; BULBAR PARALYSIS; DIET THERAPY; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GENETICS; MALE; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SURAL NERVE;

ADOLESCENT; BULBAR PALSY, PROGRESSIVE; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION, MISSENSE; NEUROLOGIC EXAMINATION; RECEPTORS, G-PROTEIN-COUPLED; RIBOFLAVIN; SURAL NERVE; YOUNG ADULT;

EID: 84905829699     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24224     Document Type: Article

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