Gregianin, E

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. [electronic resource] - European journal of neurology Nov 2013 - 1486-91 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1468-1331

10.1111/ene.12220 doi


Adult
Consanguinity
Heat-Shock Proteins--genetics
Homozygote
Humans
Italy
Male
Middle Aged
Muscle Spasticity--genetics
Mutation, Missense--genetics
Paraplegia--genetics
Pedigree
Peripheral Nervous System Diseases--genetics
Phenotype
Spinocerebellar Ataxias--congenital