Article
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.
Journal of the neurological sciences - 15 Apr 2010
Kottlors Michael, Moske-Eick Olaf, Huebner Angela, Krause Sabine, Mueller Klaus, Kress Wolfram, Schwarzwald Ralf, Bornemann Antje, Haug Verena, Heitzer Markus, Kirschner Janbernd
Abstract excerpt
The broadwide spectrum of differential diagnoses of autosomal dominant muscular dystrophies in adults can be specified by additional features. The combination of late-onset muscular dystrophy, rimmed vacuoles and inclusion bodies in the muscle biopsy, and Paget's disease of bone suggests a mutati...
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