Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF
Tài liệu tham khảo
Dyck, 1968, Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations, Arch Neurol, 18, 619, 10.1001/archneur.1968.00470360041003
Szigeti, 2006, Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management, Genet Med, 8, 86, 10.1097/01.gim.0000200160.29385.73
Street, 2002, Am J Hum Genet, 70, 244, 10.1086/337943
Saifi, 2005, SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation, Hum Mutat, 25, 372, 10.1002/humu.20153
Bennett, 2004, SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve, Ann Neurol, 55, 713, 10.1002/ana.20094
Latour, 2006, SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations, J Peripher Nerv Syst, 11, 148, 10.1111/j.1085-9489.2006.00080.x
Song, 2006, Mutation frequency for Chracot-marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients, Genet Med, 8, 532, 10.1097/01.gim.0000232481.96287.89
Meggouh, 2005, Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease, Ann Neurol, 57, 589, 10.1002/ana.20434