A Large New England Kindred With Autosomal Dominant Neurogenic Scapuloperoneal Amyotrophy With Unique Features

Abstract excerpt

We describe a large New England kindred bearing an autosomal dominant syndrome of neurogenic amyotrophy with variable expression. Features include congenital absence of muscles, progressive scapuloperoneal atrophy, laryngeal palsy, and progressive distal weakness and atrophy. The pattern of expression and progression varies in different branches of the family. Males are more severely affected than females....

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