A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21
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Dyck PJ, Chance P, Lebo R, Carney JA . Hereditary motor and sensory neuropathies In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds). Peripheral Neuropathy. 3 Ed Philadelphia: W.B. Saunders Company 1993 pp 1094–1136
De Jonghe P, Timmerman V, Nelis E . Hereditary Peripheral Neuropathies. In: Deymeer F (ed). Neuromuscular Diseases: From Basic Mechanisms to Clinical Management Basel: Karger 2000 pp 128–146
Mersiyanova IV, Perepelov AV, Polyakov AV et al. A new variant of Charcot-Marie-Tooth disease type 2 (CMT2E) is probably the result of a mutation in the neurofilament light gene Am J Hum Genet 2000 67: 37–46
De Jonghe P, Mersiyanova IV, Nelis E et al. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E Ann Neurol 2001 49: 245–249
Nelis E, Haites N, Van Broeckhoven C . Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies Hum Mutat 1999 13: 11–28
Kalaydjieva L, Gresham D, Gooding R et al. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom Am J Hum Genet 2000 67: 47–58
Bolino A, Muglia M, Conforti FL et al. Charcot-marie-tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 Nat Genet 2000 25: 17–19
Boerkoel CF, Takashima H, Stankiewicz P et al. Periaxin mutations causes recessive Dejerine-Sottas Neuropathy Am J Hum Genet 2001 68: 325–333
Guilbot A, Williams A, Ravisé N et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease Am J Hum Genet 2001 10: 415–421
Bomont P, Cavalier L, Blondeau F et al. The gene mutated in giant axonal neuropathy encodes for gigaxonin, a novel member of the cytoskeletal BTB/Kelch repeat family NatGenet 2000 26: 370–374