Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.

Klein, Christopher J

Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing. [electronic resource] - Journal of neurology, neurosurgery, and psychiatry Aug 2013 - 943-4 p. digital

Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1468-330X

10.1136/jnnp-2013-305400 doi


Adult
Aged
Amyotrophic Lateral Sclerosis--genetics
Disease Progression
Electromyography
Exome--genetics
Humans
Male
Middle Aged
Models, Molecular
Muscle Weakness--etiology
Mutation, Missense--genetics
Phenotype
Sequence Analysis, DNA
Superoxide Dismutase--genetics
Superoxide Dismutase-1