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disease: Charcot-Marie-Tooth disease, type 2A2A

id776
nameCharcot-Marie-Tooth disease, type 2A2A
descriptionCharcot-Marie-Tooth hereditary neuropathy type 2A (CMT2A) is a classic axonal peripheral sensorimotor neuropathy characterized by earlier and more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Most affected individuals develop symptoms in the first or second decade. It has recently been suggested that CMT2A represents more than 90% of the severe dominant CMT2 cases. However, milder late-onset cases and unusual presentations have also been described.
variant-disease NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) AND Charcot-Marie-Tooth disease, type 2A2A
NM_014874.3(MFN2):c.227T>C (p.Leu76Pro) AND Charcot-Marie-Tooth disease, type 2A2A
NM_014874.3(MFN2):c.493C>G (p.His165Asp) AND Charcot-Marie-Tooth disease, type 2A2A
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) AND Charcot-Marie-Tooth disease, type 2A2A
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) AND Charcot-Marie-Tooth disease, type 2A2A
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