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Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1485, doi. 10.1093/brain/awm039
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- Publication type:
- Article
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.
- Published in:
- 2005
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- Publication type:
- Journal Article