Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.
D'Amico
A
A
Department of Neuroscience, Catholic University, Rome, Italy.
Tessa
A
A
Sabino
A
A
Bertini
E
E
Santorelli
F M
FM
Servidei
S
S
D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000737:chemistry / Q000235:genetics*; D019204:GTP-Binding Proteins; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins; D020125:Mutation, Missense; D010375:Pedigree; D019683:Penetrance; D017354:Point Mutation; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins