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- Semiha Kurt, Hatice Karaer, Yuksel Kaplan, Irem Akat, Esra Battaloglu, Didem Eruslu, and A Nazli Basak.
- Gaziosmanpasa University, Medical Faculty, Department of Neurology, Tokat, Turkey. gsemihakurt@hotmail.com
- J. Neurol. Sci. 2010 Jan 15; 288 (1-2): 197-9.
AbstractMyotonic Dystrophy Type 1 (DM1) in combination with demyelinating neuropathy is very rare in literature. In this study, DM1 and demyelinating neuropathy were demonstrated clinically and electromyographically in a 43-year-old female patient from Turkey. In the patient an expanded CTG repeat in the Myotonic Dystrophy Protein Kinase (DMPK) gene was confirmed in combination with a duplication in the Charcot-Marie-Tooth Disease (CMT1A) gene. DM1 was also determined in her 25-year-old son.
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