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Paper
Title

Genetic analysis of rare congenital muscular dystrophy disorders: A three-year cohort study

چهارمین کنگره بین المللی و شانزدهمین کنگره ملی ژنتیک
Year: 1399
COI: CIGS16_210
Language: EnglishView: 92
نسخه کامل این Paper ارائه نشده است و در دسترس نمی باشد

Authors

Paria Najarzadeh Torbati - Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
Najmeh Ahangari - Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
mohammad doosti - Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
Shima imannezhad - Pediatric neurologist,Assistant professor of Pediatric neurology, mashhad university of medical sciences, Iran
narges hashemi - Pediatric neurologist,Assistant professor of Pediatric neurology, mashhad university of medical sciences, Iran
ehsan ghayoor karimiani - Innovative medical research center, Mashhad branch, Islamic Azad University, Mashhad, Iran.

Abstract:

Background and Aim: Muscular dystrophies are a heterogeneous group of inherited progressive disorders of muscle characterized by destruction of muscle and its replacement by fatty and fibrous tissue. Muscle weakness is a major manifestation and often has an early onset, but initial symptoms may also be reported in early or even late adulthood. In this cohort study we aim determined to perform exome sequencing on the patients with muscular dystrophy and myopathy disease, in ۱۰۰ families. Methods: Families with autosomal recessive pattern compatible with genetic disorders such as progressive muscular weakness, myopathy, heart failure, hypotonia, congenital myotonic, muscular dystrophy, Limb-girdle muscular dystrophy, have been conducted. A complete clinical and paraclinical examination has been done by expert specialists and clinical geneticist. Genomic DNA was extracted and evaluated through next for the candidate gene variants.Results: We described our study on ۱۰۰ families with familial congenital muscle dystrophy and aim to explain our broad research on identification of novel variants in the following genes (ANO۵, CAPN۳, FKRP, LDB۳, SGCA, SGCB, SGCG, SYNE۱, SYNE۲, GNE, COL۶A۱, COL۶A۲, POMT۱, RYR۱, GYG۱, DSC۲). At the present time, powerful sequencing techniques are identifying large numbers of genetic variants associated with unique phenotypes.Conclusion: The progression in diagnosis of muscular dystrophy disorders has undergone considerable in the past decade, for understanding phenotype definition and underlying disease mechanisms, We have demonstrated that exome sequencing as a high throughput molecular technique has rapidly become a component of the clinical approach that require a broad search for causal variants across the spectrum of genetically heterogeneous Mendelian disorders.

Keywords:

Paper COI Code

This Paper COI Code is CIGS16_210. Also You can use the following address to link to this article. This link is permanent and is used as an article registration confirmation in the Civilica reference:

https://civilica.com/doc/1195476/

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If you want to refer to this Paper in your research work, you can simply use the following phrase in the resources section:
Najarzadeh Torbati, Paria and Ahangari, Najmeh and doosti, mohammad and imannezhad, Shima and hashemi, narges and ghayoor karimiani, ehsan,1399,Genetic analysis of rare congenital muscular dystrophy disorders: A three-year cohort study,the fourth International and 16th National Genetics Congress,Tehran,https://civilica.com/doc/1195476

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