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Results 1 - 6 of 6 for "neuropathy," distal hereditary "motor," autosomal dominant 10
  1. ... V. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain. 2008 May;131(Pt 5):1217-27. doi: 10.1093/brain/awn029. Epub 2008 Mar 5. Citation ...
  2. ... DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 2; HMND2 NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT ... HSP22 (HSPB8) mutants. FASEB J. 2006 Oct;20(12):2168-70. doi: 10.1096/fj.06-5911fje. Epub 2006 Aug 25. ...
  3. ... feet.Mutations in other genes may also cause distal hereditary motor neuropathy, type V. BSCL2 GARS1 REEP1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
  4. ... PubMed BRACHYOLMIA TYPE 3; BCYM3 PARASTREMMATIC DWARFISM NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, ...
  5. ... in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord. 2006 Feb;16(2):122-5. doi: 10.1016/j.nmd.2005.11.003. Epub 2006 ...
  6. ... Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 ...