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Results 1 - 6 of 6 for Distal hereditary motor neuropathy
  1. Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results ...
  2. Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects ...
  3. ... in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord. 2006 Feb;16(2):122-5. ... Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36( ...
  4. ... sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet. 2014 Jun;22(6): ...
  5. ... atrophy 1 DHMN6 Diaphragmatic spinal muscular atrophy Distal hereditary motor neuronopathy type VI Distal spinal muscular atrophy type 1 DSMA1 HMN6 HMNVI Severe infantile axonal neuropathy with respiratory failure SIANRF SMARD1 Spinal muscular atrophy ...
  6. ... features, Andermann syndrome is sometimes referred to as hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC). ... Agenesis of corpus callosum with polyneuropathy Charlevoix disease Hereditary motor and sensory neuropathy with agenesis of the corpus callosum HMSN/ACC ...