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Autosomal recessive pure spastic paraplegia
- ... paraplegin, isoform 1 PGN spastic paraplegia 7 spastic paraplegia 7 (pure and complicated autosomal recessive) SPG5C SPG7_HUMAN Tests of SPG7 PubMed SPG7 ...
- ... muscle wasting Spastic paraplegia 20, autosomal recessive Spastic paraplegia, autosomal recessive, Troyer type SPG20 Genetic Testing Registry: Hereditary spastic ...
- ... spastic paraplegia 11 Genetic Testing Registry: Hereditary spastic paraplegia Autosomal recessive spastic paraplegia type 11 Hereditary spastic paraplegia National ...
- ... not show signs and symptoms of the condition. Autosomal recessive spastic paraplegia 5A Spastic paraplegia 5A SPG5A Genetic Testing Registry: ... paraplegia Genetic Testing Registry: Hereditary spastic paraplegia 5A ... type 5A Hereditary spastic paraplegia National Organization for ...
- ... not show signs and symptoms of the condition. Autosomal recessive spastic paraplegia type 49 Spastic paraplegia 49, autosomal recessive SPG49 Genetic Testing Registry: Hereditary spastic paraplegia 49 ...
- ... Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 PubMed Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G. Loss of m-AAA protease ... stress in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24;163(4): ...
- ... 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 ...