THE STUDY OF MUTATION IN EXON 8 OF CLCN1 GENE IN IRANIAN NON-DYSTROPHICMYOTONIA PATIENTS

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HESAMI ZOKAI FAEZEH; HEIDARI MOHAMMAD MAHDI; KHATAMI MEHRI; NAFISSI SHAHRIAR

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Journal: Razi Journal of Medical Sciences Year:2017 | Volume:24 | Issue:158 Page(s): 24-31

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Title

THE STUDY OF MUTATION IN EXON 8 OF CLCN1 GENE IN IRANIAN NON-DYSTROPHICMYOTONIA PATIENTS

Author(s)

HESAMI ZOKAI FAEZEH | HEIDARI MOHAMMAD MAHDI | KHATAMI MEHRI | NAFISSI SHAHRIAR | Issue Writer Certificate

Keywords

NONDYSTROPHIC MYOTONIAQ1

MUTATIONQ1

CLCN1Q2

PCR-SSCPQ3

Abstract

Background: Non-dystrophy myotonias (NDMs) have similar clinical signs of muscleweakness and congenital myotoniais typical example. This disease is caused by MUTATIONs inCLCN1 gene. CLCN1 gene has 23 exons and exon 8 is hotspot. MUTATIONs in skeletal musclechloride channel gene are associated with a group of clinically overlapping diseases byalterations in the excitability of the sarcolemma. The purpose of the study is to identifyhotspot exon 8 MUTATIONs in Iranian non-dystrophic myotonic patients.Methods: In this study, twenty eight Iranian sporadic patients with non-dystrophic myotoniaanalyzed for the MUTATION scanning in exon 8 of CLCN1 gene by PCR-SSCP. DNA fragmentsshowing abnormal banding patterns were sequenced for identification of exact MUTATIONs.Results: We found no MUTATION in exon 8 of CLCN1 genes.Conclusion: Our study indicates no MUTATION in the CLCN1 gene in Iranian non-dystrophicmyotonia patients, but we suggest follow-up studies for finding the direct molecular relationof this gene with this disorder.

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APA: Copy

HESAMI ZOKAI, FAEZEH, HEIDARI, MOHAMMAD MAHDI, KHATAMI, MEHRI, & NAFISSI, SHAHRIAR. (2017). THE STUDY OF MUTATION IN EXON 8 OF CLCN1 GENE IN IRANIAN NON-DYSTROPHICMYOTONIA PATIENTS. RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), 24(158), 24-31. SID. https://sid.ir/paper/10673/en

Vancouver: Copy

HESAMI ZOKAI FAEZEH, HEIDARI MOHAMMAD MAHDI, KHATAMI MEHRI, NAFISSI SHAHRIAR. THE STUDY OF MUTATION IN EXON 8 OF CLCN1 GENE IN IRANIAN NON-DYSTROPHICMYOTONIA PATIENTS. RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES)[Internet]. 2017;24(158):24-31. Available from: https://sid.ir/paper/10673/en

IEEE: Copy

FAEZEH HESAMI ZOKAI, MOHAMMAD MAHDI HEIDARI, MEHRI KHATAMI, and SHAHRIAR NAFISSI, “THE STUDY OF MUTATION IN EXON 8 OF CLCN1 GENE IN IRANIAN NON-DYSTROPHICMYOTONIA PATIENTS,” RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), vol. 24, no. 158, pp. 24–31, 2017, [Online]. Available: https://sid.ir/paper/10673/en

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