Charcot-Marie-Tooth neuropathy
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Charcot-Marie-Tooth diseases
29 September 2003 -
dominant intermediate Charcot-Marie-Tooth
14 November 2003Etiology
locus DI-CMTC : 1p34-p35 -
hereditary sensory and autonomic neuropathy type 2
5 April 2004HSAN type II, HSAN2
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distal hereditary motor neuropathy
11 May 2004Etiology
distal hereditary motor neuropathy type II linked to chromosome 12q24.3: mutations in small heat-shock 22-kDa protein 8 (HSPB8 or HSP22) (#15122253#) -
Charcot-Marie-Tooth disease type 4B1
24 November 2003MIM.601382
Etiology:
mutations in the MTMR2 gene (MIM.603557), coding for myotubularin-related protein-2
See also:
Charcot-Marie-Tooth diseases -
distal spinal muscular atrophy type 5
26 September 2003distal spinal muscular atrophy type V, DSMA5
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Charcot-Marie-Tooth disease type 2D
26 September 2003Etiology
mutations in Glycyl tRNA synthetase (#12690580#) -
Charcot-Marie-Tooth type 2B disease
2 October 2003CMT2B
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Charcot-Marie-Tooth disease type 4C
27 October 2003Charcot-Marie-Tooth Type 4C neuropathy
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slowed nerve-conduction velocities
22 September 2003NCVs
0 | ... | 60 | 70 | 80 | 90 | 100 | 110 | 120 | 130 | 140 | ... | 1050