| Literature DB >> 19846120 |
Semiha Kurt1, Hatice Karaer, Yuksel Kaplan, Irem Akat, Esra Battaloglu, Didem Eruslu, A Nazli Basak.
Abstract
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.Entities:
Mesh：
Substances：
Year: 2009 PMID： 19846120 DOI： 10.1016/j.jns.2009.09.028
Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181