{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:01:00Z","timestamp":1791824460354,"version":"4.3.4"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,9,16]],"date-time":"2014-09-16T00:00:00Z","timestamp":1410825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Association de la Neuropathie sensitive"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: We have identified a large consanguineous Lebanese family with 5 individuals with severe childhood\u2010onset recessive sensory loss associated with deafness and variable optic atrophy. <jats:italic>Methods<\/jats:italic>: Autozygosity mapping was performed in all affected individuals, followed by whole\u2010exome sequencing (WES) in 2 individuals. <jats:italic>Results<\/jats:italic>: WES identified a homozygous missense mutation (c.916G&gt;A, p.G306R) in the cerebral riboflavin transporter <jats:italic>SLC52A2<\/jats:italic>, recently shown to cause Brown\u2010Vialetto\u2010Van\u2010Laere syndrome (BVVLS), which is considered primarily a motor neuronopathy. Our patients have a phenotype distinct from BVVLS, characterized by severe progressive sensory loss mainly affecting vibration and proprioception that evolves to include sensorineural hearing loss in childhood, variable degrees of optic atrophy, and marked upper extremity weakness and atrophy. Treatment of 3 patients with 400 mg\/day riboflavin over 3 months produced definite clinical improvement. <jats:italic>Conclusions<\/jats:italic>: Mutations in <jats:italic>SLC52A2<\/jats:italic> result in a recognizable phenotype distinct from BVVLS. Early recognition of this disorder is critical, given its potential treatability. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>50<\/jats:bold>: 775\u2013779, 2014<\/jats:p>","DOI":"10.1002\/mus.24224","type":"journal-article","created":{"date-parts":[[2014,2,24]],"date-time":"2014-02-24T18:23:50Z","timestamp":1393266230000},"page":"775-779","source":"Crossref","is-referenced-by-count":26,"title":["Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood"],"prefix":"10.1002","volume":"50","author":[{"given":"Myriam","family":"Srour","sequence":"first","affiliation":[{"name":"Laboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University Montr\u00e9al Canada"},{"name":"Division of Pediatric Neurology Montreal Children's Hospital\u2010McGill University Health Center Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Lisa","family":"Putorti","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Schwartzentruber","sequence":"additional","affiliation":[{"name":"McGill University and Genome Quebec Innovation Centre Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Bolduc","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael Israel","family":"Shevell","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology Montreal Children's Hospital\u2010McGill University Health Center Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"FORGE Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Poulin","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology Montreal Children's Hospital\u2010McGill University Health Center Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"O'ferrall","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; 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