Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Canafoglia, Laura

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. [electronic resource] - Neurology Jun 2014 - 2003-6 p. digital

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

1526-632X

10.1212/WNL.0000000000000482 doi


Adult
Age of Onset
Diagnosis, Differential
Exome--genetics
Female
Genome-Wide Association Study--methods
Humans
Male
Mucolipidoses--diagnosis
Mutation
Myoclonus--diagnosis
Neuraminidase--genetics
Pedigree