ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Disease: Axonal neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.020 GeneticVariation disease BEFREE We report a new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic paraplegia in association with motor axonal neuropathy in a 4-year-old girl resembling diplegic cerebral palsy. 19735987 2010
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.020 GeneticVariation disease BEFREE We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family. 15742100 2005