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Distal hereditary motor neuropathy
- Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results ...
- 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 ...
- ... 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( ...
- ... sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet. 2014 Jun;22(6): ...
- ... 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 ...
- ... 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 ...