MIM.601382
Etiology:
mutations in the MTMR2 gene (MIM.603557), coding for myotubularin-related protein-2
See also:
Charcot-Marie-Tooth diseases
Home > E. Pathology by systems > Nervous system > Peripheral nerves
Peripheral nerves
Adj. Nervous
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Charcot-Marie-Tooth disease type 4B1
24 November 2003 -
distal spinal muscular atrophies
21 November 2003distal spinal muscular atrophy, DSMAs
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dominant intermediate Charcot-Marie-Tooth
14 November 2003Etiology
locus DI-CMTC : 1p34-p35 -
Charcot-Marie-Tooth disease type 4C
27 October 2003Charcot-Marie-Tooth Type 4C neuropathy
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Charcot-Marie-Tooth type 2B disease
2 October 2003CMT2B
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Charcot-Marie-Tooth disease associated with early-onset glaucoma
29 September 2003Etiology
Locus 11p15: mutations in the myotubularin-related 13 gene MTMR13 (#12687498#) -
Charcot-Marie-Tooth diseases
29 September 2003Charcot-Marie-Tooth neuropathy
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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#) -
amyotrophic lateral sclerosis
23 September 2003ALS