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New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)

28 Mar 2000

Abstract excerpt

Myotonic (DM; OMIM 160900, also known as dystrophia myotonica, myotonia atrophica and Steinert disease) is an autosomal dominant associated with abnormalities of other organs, including eyes, heart, endocrine system, central and peripheral nervous systems, gastrointestinal organs, bone, and skin.1 The mutation underlying DM is an expansion of an unstable cytosine-thymine-guanine (CTG) trinucleotide repeat in the...

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PMID: 10746587
DOI: 10.1212/wnl.54.6.1218

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