Article
Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy.
Neuromuscular disorders : NMD - 1 Jan 1993
Bushby K M, Goodship J A, Nicholson L V, Johnson M A, Haggerty I D, Gardner-Medwin D
Abstract excerpt
We have analysed the results of clinical assessment, X-inactivation status, deletion screening and dystrophin analysis in eight manifesting carriers of Duchenne and Becker muscular dystrophy (DMD and BMD). Only two had a prior family history of X-linked muscle disease, all had normal karyotypes and none were twins. Presentation varied from 2 to 25 yr and progression varied from a DMD-like severity to a very mild...
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