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Abstract
We report a 31-year-old man with facioscapulohumeral muscular dystrophy who had congenital anomalies and mental retardation. Southern blot analysis, using the probe p13E-11, displayed an abnormal EcoRI DNA fragment that reflect DNA rearrangements in facioscapulohumeral muscular dystrophy. In addition, high-resolution cytogenetic study revealed an interstitial deletion of the short arm of chromosome 9: 46,XY, del(9)(p.22.1p24.1)
NEUROLOGY 1996;46: 566-569
- Copyright 1996 by the Advanstar Communication Inc.
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