Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
Citation
Foley , A R , Menezes , M P , Pandraud , A , Gonzalez , M A , Al-Odaib , A , Abrams , A J , Sugano , K , Yonezawa , A , Manzur , A Y , Burns , J , Hughes , I , McCullagh , B G , Jungbluth , H , Lim , M J , Lin , J-P , Megarbane , A , Urtizberea , J A , Shah , A H , Antony , J , Webster , R , Broomfield , A , Ng , J , Mathew , A A , O'Byrne , J J , Forman , E , Scoto , M , Prasad , M , O'Brien , K , Olpin , S , Oppenheim , M , Hargreaves , I , Land , J M , Wang , M X , Carpenter , K , Horvath , R , Straub , V , Lek , M , Gold , W , Farrell , M O , Brandner , S , Phadke , R , Matsubara , K , McGarvey , M L , Scherer , S S , Baxter , P S , King , M D , Clayton , P , Rahman , S , Reilly , M M , Ouvrier , R A , Christodoulou , J , Zuechner , S , Muntoni , F & Houlden , H 2014 , ' Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 ' , Brain , vol. 137 , no. 1 , pp. 44-56 . https://doi.org/10.1093/brain/awt315