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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-01-2009
Symbol CMT4D
Location 8q24.22
Name Charcot-Marie-tooth disease, type 4D
Other name(s) Charcot-Marie-tooth neuropathy, type 4D
Corresponding gene NDRG1
Other symbol(s) HMSNL, HMSN4D
Main clinical features
  • hereditary motor and sensory neuropathy, demyelinating, Lom Gypsy kindred, with early onset, presenting with muscle weakness and wasting, tendon areflexia, skeletal and foot deformities, sensory loss, severely decreased nerve conduction velocities, sensory neural deafness and upper limb weakness in the second or third decade, neve biopsy showing demyelination and remyelination associated with axonal involvement
  • at IRM, subcortical white matter abnormalities
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name N-myc downstream regulated gene 1
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s) truncating mutations