Novel GJB1 mutation causing adult-onset Charcot–Marie–Tooth disease in a female patient

Neuromuscular Disorders - Tập 23 - Trang 899-901 - 2013
Mika H. Martikainen1, Kari Majamaa2
1University of Turku and Turku University Hospital, Division of Clinical Neurosciences, Turku, Finland
2University of Oulu and Oulu University Hospital, Department of Clinical Medicine, Neurology, Oulu, Finland

Tài liệu tham khảo

Skre, 1974, Genetic and clinical aspects of Charcot–Marie–Tooth’s disease, Clin Genet, 6, 98, 10.1111/j.1399-0004.1974.tb00638.x Murphy, 2012, Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing, J Neurol Neurosurg Psychiatry, 83, 706, 10.1136/jnnp-2012-302451 Saporta, 2011, Charcot–Marie–Tooth disease subtypes and genetic testing strategies, Ann Neurol, 69, 22, 10.1002/ana.22166 Birouk, 1998, X-linked Charcot–Marie–Tooth disease with connexin 32 mutations: clinical and electrophysiologic study, Neurology, 50, 1074, 10.1212/WNL.50.4.1074 Dubourg, 2001, Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot–Marie–Tooth disease, Brain, 124, 1958, 10.1093/brain/124.10.1958 Kleopa, 2006, Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X, Neurology, 66, 396, 10.1212/01.wnl.0000196479.93722.59 Kleopa, 2012, How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?, Brain Res, 1487, 198, 10.1016/j.brainres.2012.03.068 Bergoffen, 1993, Connexin mutations in X-linked Charcot–Marie–Tooth disease, Science, 262, 2039, 10.1126/science.8266101 Inherited Peripheral Neuropathies Mutation Database (IPNMDB). Available at: http://www.molgen.ua.ac.be/cmtmutations/Home/Default.cfm (date accessed: 28.05.2013). Shy, 2005, Reliability and validity of the CMT neuropathy score as a measure of disability, Neurology, 64, 1209, 10.1212/01.WNL.0000156517.00615.A3 Shy, 2007, CMT1X phenotypes represent loss of GJB1 gene function, Neurology, 68, 849, 10.1212/01.wnl.0000256709.08271.4d Nelis, 1997, Mutation analysis of the connexin 32 (Cx32) gene in Charcot–Marie–Tooth neuropathy type 1: identification of five new mutations, Hum Mutat, 9, 47, 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M Kleopa, 2011, The role of gap junctions in Charcot–Marie–Tooth disease, J Neurosci, 31, 17753, 10.1523/JNEUROSCI.4824-11.2011 Castro, 1999, Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations, J Neurosci, 19, 3752, 10.1523/JNEUROSCI.19-10-03752.1999 Bruzzone, 1996, Connections with connexins: the molecular basis of direct intercellular signaling, Eur J Biochem, 238, 1, 10.1111/j.1432-1033.1996.0001q.x Bone, 1997, Connexin32 and X-linked Charcot–Marie–Tooth disease, Neurobiol Dis, 4, 221, 10.1006/nbdi.1997.0152 Stauch, 2012, Characterization of the structure and intermolecular interactions between the connexin 32 carboxyl-terminal domain and the protein partners synapse-associated protein 97 and calmodulin, J Biol Chem, 287, 27771, 10.1074/jbc.M112.382572 Ceroni, 2006, DISULFIND: a disulfide bonding state and cysteine connectivity prediction server, Nucleic Acids Res, 34, W177, 10.1093/nar/gkl266 Siskind, 2011, Phenotype expression in women with CMT1X, J Peripher Nerv Syst, 16, 102, 10.1111/j.1529-8027.2011.00332.x Murphy, 2012, X inactivation in females with X-linked Charcot–Marie–Tooth disease, Neuromuscul Disord, 22, 617, 10.1016/j.nmd.2012.02.009 Gemignani, 2004, Sensory manifestations in Charcot–Marie–Tooth disease, J Peripher Nerv Syst, 9, 7, 10.1111/j.1085-9489.2004.09103.x