Myotonic dystrophy and limb girdle muscular dystrophy in one family.

doi:10.1007/BF00252840

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Article

Myotonic dystrophy and limb girdle muscular dystrophy in one family.

The Clinical investigator - 1 May 1994

Schröder R, Beyenburg S, Weber J, Olek K, Zierz S

Abstract excerpt

A family is reported in which a 29-year-old woman showed the clinical features of myotonic dystrophy while her 26-year-old brother presented with the clinical picture of limb girdle syndrome. In the affected female, direct genetic testing for the specific myotonic dystrophy mutation on chromosome 19 revealed abnormal expansion of a repeat unit containing the three nucleotides cytosine, thymine, and guanine...

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