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- Spinal_muscular_atrophy_with_lower_extremity_predominance abstract "Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs.The disorder is associated with a genetic mutation in the DYNC1H1 gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease) and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMA-LED.The condition was first described in a multi-generational family by Walter Timme in 1917. Its linkage to the DYNC1H1 gene was discovered in 2010 by M. B. Harms, et al., who also proposed the current name of the disorder.".
- Spinal_muscular_atrophy_with_lower_extremity_predominance omim "158600".
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageID "35566999".
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageLength "3078".
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageOutDegree "12".
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageRevisionID "680709266".
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Atrophy.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Category:Neurogenetic_disorders.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Charcot–Marie–Tooth_disease.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink DYNC1H1.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Dominance_(genetics).
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Gene.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Genetic_disorder.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Inheritance.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Mutation.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLink Spinal_muscular_atrophies.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLinkText "Spinal muscular atrophy with lower extremity predominance".
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageWikiLinkText "spinal muscular atrophy with lower extremity predominance".
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageUsesTemplate Template:Genetic-disorder-stub.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageUsesTemplate Template:Infobox_disease.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageUsesTemplate Template:Reflist.
- Spinal_muscular_atrophy_with_lower_extremity_predominance subject Category:Autosomal_dominant_disorders.
- Spinal_muscular_atrophy_with_lower_extremity_predominance subject Category:Neurogenetic_disorders.
- Spinal_muscular_atrophy_with_lower_extremity_predominance subject Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Disease.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Disorder.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Thing.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Q12136.
- Spinal_muscular_atrophy_with_lower_extremity_predominance comment "Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs.The disorder is associated with a genetic mutation in the DYNC1H1 gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease) and is inherited in an autosomal dominant manner.".
- Spinal_muscular_atrophy_with_lower_extremity_predominance label "Spinal muscular atrophy with lower extremity predominance".
- Spinal_muscular_atrophy_with_lower_extremity_predominance sameAs Q7577467.
- Spinal_muscular_atrophy_with_lower_extremity_predominance sameAs m.0j9kdd8.
- Spinal_muscular_atrophy_with_lower_extremity_predominance sameAs Q7577467.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wasDerivedFrom Spinal_muscular_atrophy_with_lower_extremity_predominance?oldid=680709266.
- Spinal_muscular_atrophy_with_lower_extremity_predominance isPrimaryTopicOf Spinal_muscular_atrophy_with_lower_extremity_predominance.