Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder |
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Authors: | Ashok Kumar Sarita AgarwalDivya Agarwal Shubha R. Phadke |
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Affiliation: | Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India |
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Abstract: | Myotonic dystrophy is a progressive multisystem genetic disorder affecting about 1 in 8000 people worldwide. The unstable repeat expansions of (CTG)n or (CCTG)n in the DMPK and ZNF9 genes cause the two known subtypes of myotonic dystrophy: (i) myotonic dystrophy type 1 (DM1) and (ii) myotonic dystrophy type 2 (DM2) respectively. There is currently no cure but supportive management helps equally to reduce the morbidity and mortality and patients need close follow up to pay attention to their clinical problems. This review will focus on the clinical features, molecular view and genetics, diagnosis and management of DM1. |
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Keywords: | CTG repeat DMPK gene Genetics Myotonic dystrophy type 1 (DM1) Triplet repeat disorder |
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