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disease: Charcot-Marie-Tooth disease, dominant intermediate B

id784
nameCharcot-Marie-Tooth disease, dominant intermediate B
descriptionDNM2-related intermediate Charcot-Marie-Tooth neuropathy (DI-CMTB) has a classic, mild to moderately severe Charcot-Marie-Tooth hereditary neuropathy phenotype that often includes pes cavus foot deformity, depressed tendon reflexes, distal muscle weakness and atrophy, and sensory loss. Age of onset varies greatly among affected individuals and ranges from age two to 50 years. It is unusual for individuals with DI-CMTB to become wheelchair bound. Other findings include asymptomatic neutropenia and early-onset cataracts (often noted in childhood before age 15 years).
variant-disease NM_001005360.2(DNM2):c.177C>T (p.Arg59=) AND Charcot-Marie-Tooth disease, dominant intermediate B
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) AND Charcot-Marie-Tooth disease, dominant intermediate B
NM_001005360.2(DNM2):c.177C>A (p.Arg59=) AND Charcot-Marie-Tooth disease, dominant intermediate B
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) AND Charcot-Marie-Tooth disease, dominant intermediate B
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn) AND Charcot-Marie-Tooth disease, dominant intermediate B
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