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6
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"neuropathy," distal hereditary "motor," autosomal dominant 1
- ... V. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain. 2008 May; ...
- ... also contribute to the signs and symptoms of distal hereditary motor neuropathy, type II. HSPB1 HSPB8 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 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 ...
- ... PubMed BRACHYOLMIA TYPE 3; BCYM3 PARASTREMMATIC DWARFISM NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, ...
- ... 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. ...
- ... PubMed Silver JR. Silver syndrome. BMJ. 2007 Sep 1;335(7617):422-3. doi: ... hereditary motor neuropathy. Neuromuscul Disord. 2006 Feb;16(2):122-5. ...