Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia

OBJECTIVE: The lack of epidemiological data and molecular diagnostic services in Malaysia has hampered the setting-up of a comprehensive management plan for patients with myotonic dystrophy type 1 (DM1), leading to delayed diagnosis, treatment and support for patients and families. The aim of this s...

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Vydáno v:BMJ Open
Hlavní autoři: Ambrose, Kathlin K, Ishak, Taufik, Lian, Lay-Hoong, Goh, Khean-Jin, Wong, Kum-Thong, Ahmad-Annuar, Azlina, Thong, Meow-Keong
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2017
Témata:
Neurology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5387946/
https://ncbi.nlm.nih.gov/pubmed/28363916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2015-010711
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