Condition: Muscle Spasticity


rs776679653 in ISCA1 gene and Muscle Spasticity PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs1057516033 in KAT6B gene and Muscle Spasticity PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs312262717 in SPG11 gene and Muscle Spasticity PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

rs121918358 in SPG7 gene and Muscle Spasticity PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.