Combination of myotonic dystrophy and hereditary motor and sensory neuropathy


Kurt S., Karaer H., Kaplan Y., Akat I., BATTALOĞLU E., Eruslu D., ...Daha Fazla

JOURNAL OF THE NEUROLOGICAL SCIENCES, cilt.288, ss.197-199, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 288
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.jns.2009.09.028
  • Dergi Adı: JOURNAL OF THE NEUROLOGICAL SCIENCES
  • Sayfa Sayıları: ss.197-199

Özet

Myotonic 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. (C) 2009 Elsevier B.V. All rights reserved.