Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

John W. Day, Robert Roelofs, Bonnie Leroy, Irene Pech, Kellie Benzow, Laura P.W. Ranum

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We report the clinical and genetic characteristics of a five-generation family (MN1) with an unusual form of myotonic dystrophy (DM). Affected individuals have clinical features that are similar to DM including myotonia, distal weakness, frontal balding, polychromatic cataracts, infertility and cardiac arrhythmias. Genetic analyses reveal that affected individuals do not have the CTG expansion associated with DM, nor is the disease locus linked to the DM region of chromosome 19. We have also excluded the MN1 disease locus from the chromosomal regions containing the genes for the muscle sodium (α- and β-subunits) and chloride channels, both of which are involved in other myotonic disorders. We have recently mapped the disease locus (DM2) in this family to a 10 cM region of chromosome 3q [Ranum LPW, Rasmussen PF, Benzow KA, Koob MD, Day JW. Nat Genet 1998;19:196-198]. The genetically distinct form of myotonic dystrophy in the MN1 kindred shares some of the clinical features of previously reported families with proximal myotonic myopathy (PROMM). The size of the MN1 family (25 affected individuals) makes it a unique resource for both clinical and genetic studies. This second form of myotonic dystrophy may help resolve the confusion that remains about how the CTG repeat expansion in the 3' untranslated portion of the myotonin protein kinase gene causes the multisystem involvement of DM.

Original languageEnglish (US)
Pages (from-to)19-27
Number of pages9
JournalNeuromuscular Disorders
Issue number1
StatePublished - Jan 1 1999

Bibliographical note

Funding Information:
We thank family members for their generosity and hospitality. We also thank J. Lundgren for technical assistance, Michael Koob for helpful discussions, and Carrie Peterson and Carol Hauser for help in contacting family members. This work was supported by the Graduate School of the University of Minnesota, and National Institutes of Health grant R01 NS35870.


  • DM
  • DM2
  • Myotonia
  • Myotonic dystrophy
  • Proximal myotonic myopathy


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