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GENATLAS PHENOTYPE
last update : 17-12-2010
Symbol CMT2L
Location 12q24.23
Name Charcot-Marie-Tooth disease, axonal, type 2L
Other name(s) Charcot-Marie-Tooth neuropathy, type 2L
Corresponding gene HSPB8
Main clinical features
  • slow evolution and severe affection only in advanced age and at biopsy loss of large myelinating fibers and a large number of clusters with mostly thinly myelinated axons
    • Genetic determination autosomal dominant
    Related entries . including distal hereditary motor neuropathy type II, HMN2A (OMIM 158590)
    Function/system disorder neurology
    Type disease
    Gene product
    Name small stress protein-like protein HSP22
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) . mutations in HSPB8 strongly affect neurite length and integrity in motor neurons, whereas the other cell types were generally unaffected and degeneration of neurites in motor neurons seemed to occur independently of apoptosis and death of the cell body (PMID: 20538880))