Article
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.
Neurology - 10 Aug 2010
Harms M B, Allred P, Gardner R, Fernandes Filho J A, Florence J, Pestronk A, Al-Lozi M, Baloh R H
Abstract excerpt
OBJECTIVE: Spinal muscular atrophies (SMAs) are hereditary disorders characterized by weakness from degeneration of spinal motor neurons. Although most SMA cases with proximal weakness are recessively inherited, rare families with dominant inheritance have been reported. We aimed to clinically, pathologically, and genetically characterize a large North American family with an autosomal dominant proximal SMA....
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