From: Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
Gene
Microsatellite markers
HSD17B4
D5S404, D5S494, D5S471, D5S503
HARS2
D5S2116, D5S658, D5S2010
CLPP
D19S1034, D19S427, D19S406, D19S873
LARS2
D3S3624, D3S3582, D3S1581
TWNK
D10S192, D10S1265, D10S1697
ERAL1
D17S1878, D17S925, D17S1873