Article
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
American journal of human genetics - 1 Oct 2000
Johnston J J, Kelley R I, Crawford T O, Morton D H, Agarwala R, Koch T, Schäffer A A, Francomano C A, Biesecker L G
Abstract excerpt
The nemaline myopathies are characterized by weakness and eosinophilic, rodlike (nemaline) inclusions in muscle fibers. Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish. In the first months of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hips. Progressive worsening of the proximal contractures, weakness, and a pectus carinatum...
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