65 year old female with subacute onset of limbs weakness Cecile L. Phan, M.D. Eugene Lai, M.D. Yadollah Harati, M.D.
ALS - amyotrophic lateral sclerosis
Investigation of mutated Cu/Zn Superoxide Dismutase Sam Schuberg Beckman Laboratory Howard Hughes Medical Institute: Summer 2007.
1) SMAs 1a)SMN gene on 5q11.2-13.3 AR carrier frequency 1 / 40 Total incidence 1 / 6,000 births Tested for locally SMA I (Werdnig-Hoffman) ~ 1 / 20,000.