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Duchenne muscular dystrophy and idiopathic hyperCKemia in a family causing confusion in genetic counselling

✍ Scribed by Bushby, Katharine; Goodship, Judith; Haggerty, Daisy; Heald, Andrew; Walls, Timothy

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 136 KB
Volume: 66
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961211)66:2<237::aid-ajmg22>3.0.co;2-t

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✦ Synopsis

We read with interest the report of Frydman et al. [1995] who described a child with DMD whose father had idiopathic hyperCKemia. We have been following another family in which both DMD and presumed idiopathic hyperCKemia are seen, in which for several years there was confusion in the genetic counselling that could be offered.

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