1. Representation of Southern blot analysis revealing an expanding triplet repeat mutation in a myotonic dystrophy family. A grandmother and mother with the adult form of the disease and a child with the infantile form of the disease are shown. The normal-size genomic DNA fragment (lowest band) is present in homozygous form in the unaffected individuals and in heterozygous form in the affected family members. The larger mutant fragment is present in all affected individuals, with its size increasing from grandmother to mother to child. (From Beaudet AL, Ballabio A: Harrison’s Principles of Internal Medicine 13th ed. New York, McGraw-Hill, 1994, p 349. Used by permission.)
Source: Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 28, 2017
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