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.