Prevalence (%) of clinical parameters based on data from 4 references describing 42 individuals Add new symptom/sign to this disease
List of symptoms
List of references: Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. S Winterthun, G Ferrari, L He, R W Taylor, M Zeviani, D M Turnbull, B A Engelsen, G Moen, L A Bindoff, Neurology - Apr 2005 POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. M Mancuso, M Filosto, M Bellan, R Liguori, P Montagna, A Baruzzi, S DiMauro, V Carelli, Neurology - Jan 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. G Van Goethem, P Luoma, M Rantamäki, A Al Memar, S Kaakkola, P Hackman, R Krahe, A Löfgren, J J Martin, P De Jonghe, A Suomalainen, B Udd, C Van Broeckhoven, Neurology - Oct 2004 Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Claudia Schulte, Matthis Synofzik, Thomas Gasser, Ludger Schöls, Neurology - Sep 2009 |