Key result
A C450T missense mutation in the myotilin gene was identified in a large North American family with limb girdle muscular dystrophy 1A, and was absent in 396 control chromosomes.
Population
A large North American family of German descent expressing an autosomal dominant form of limb girdle…
Design
Other
Authors
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May support myotilin screening in LGMD1A families; leaves open replication and functional validation.
Observational
Identifies a missense mutation in the myotilin gene as the genetic cause of limb girdle muscular dystrophy 1A.
Michael A. Hauser (2000) conducted an observational in Limb girdle muscular dystrophy 1A (LGMD1A). A C450T missense mutation in the myotilin gene was identified in a large North American family with limb girdle muscular dystrophy 1A, and was absent in 396 control chromosomes.
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