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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. ... Hereditary spastic paraplegia Genetic Testing Registry: Hereditary spastic paraplegia 5A Autosomal recessive spastic paraplegia type 5A Hereditary spastic paraplegia National ...
  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 the mutated ... Genetic Testing Registry: Hereditary spastic paraplegia Genetic Testing ...