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GENATLAS PHENOTYPE
last update : 10-04-2013
Symbol CMT2F
Location 7q11.23
Name Charcot-Marie-Tooth disease, axonal, type 2F
Other name(s)
  • Charcot-Marie-Tooth neuropathy type 2F
  • neuropathy, distal hereditary motor, type IIB
    • Corresponding gene HSPB1
    Other symbol(s) HMN2B, DHMN2B
    Main clinical features
  • characterized by distal muscle weakness and amyotrophy, sensory loss, decreased or absent tendon reflexes, with normal nerve conduction velocity
    • Genetic determination autosomal dominant
    Related entries . including neuropathy distal hereditary motor, HSPB1 type (Omim 608634)
    Function/system disorder neurology
    Type disease
    Gene product
    Name heat shock 27kDa protein 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutation disrupting neurofilament assembly, failing to be transported within neurites of cortical neurons and rather forming intracellular aggregates
    Remark(s)
  • enhanced interaction of mutant HSPB1 with tubulin, and neuronal cells are particularly vulnerable to disturbances in microtubule dynamics, leading to neuron-specific CMT phenotype (PMID: 22031878))