File:PMC3891447 awt315f3p.png

License

Attribution 3.0 Unported (CC BY 3.0)

Summary

Author:Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H ,1 Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders, University College London Institute of Child Health and Great Ormond Street Hospital for Children (Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC3891447_awt315f3p&query=progressive%20bulbar%20palsy&it=xg&req=4&npos=51 Description:awt315-F3: Phenotypic characteristics of Brown-Vialetto-Van Laere syndrome caused by mutations in SLC52A2. Severe weakness of neck extension and upper limbs with comparatively less weakness of lower limbs seen in Patient I1 at 1.8 years of age (A), Patient E4 at 5.8 years of age (B) and Patient E1 at 8.6 years of age (C). Symmetrical atrophy of intrinsic hand muscles of Patient E1’s left (D) and right (E) hands at 10.5 years of age.