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Results 1 - 5 of 5 for Spastic paraplegia "82," autosomal recessive
  1. ... encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg. ...
  2. ... encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg. ...
  3. ... Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A PubMed Arnoldi A, Crimella C, Tenderini E, ...
  4. ... 3-methylglutaconic aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus MGA, type III ...
  5. ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of ... Genetic Testing Registry: Hereditary spastic paraplegia Genetic Testing ...