Results 1 -
4
of
4
for
Spastic paraplegia "82," autosomal recessive
- ... 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. ...
- ... Hereditary spastic paraplegia Genetic Testing Registry: Hereditary spastic paraplegia 5A Autosomal recessive spastic paraplegia type 5A Hereditary spastic paraplegia National ...
- ... 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 ...
- ... 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 ...
