Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report
Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weakness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, northwest of southern Khorasan Province, Iran reports a four years girl of autosomal recess...
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2018-12-01
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| Series: | Iranian Journal of Public Health |
| Subjects: | |
| Online Access: | https://ijph.tums.ac.ir/index.php/ijph/article/view/15526 |
| _version_ | 1811190103554392064 |
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| author | Eskandar TAGHIZADEH Hamed ABDOLKARIMI Reza BOOSTANI Arianeh SADRNABAVI |
| author_facet | Eskandar TAGHIZADEH Hamed ABDOLKARIMI Reza BOOSTANI Arianeh SADRNABAVI |
| author_sort | Eskandar TAGHIZADEH |
| collection | DOAJ |
| description | Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weakness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, northwest of southern Khorasan Province, Iran reports a four years girl of autosomal recessive LGMD with proximal weakness and myopathy patterns. We detected four new alternations in this patient not reported for our population. One of them was important clinically that exists as unreported homozygous deletion encompassing exon 2 of the Sarcoglycan Beta (SGCB) gene. The use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. We used the NGS method for the first time to analysis the mutation in this family. |
| first_indexed | 2024-04-11T14:44:40Z |
| format | Article |
| id | doaj.art-1dd8b600b48649d98a45d09a36eb8b3a |
| institution | Directory Open Access Journal |
| issn | 2251-6085 2251-6093 |
| language | English |
| last_indexed | 2024-04-11T14:44:40Z |
| publishDate | 2018-12-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Public Health |
| spelling | doaj.art-1dd8b600b48649d98a45d09a36eb8b3a2022-12-22T04:17:40ZengTehran University of Medical SciencesIranian Journal of Public Health2251-60852251-60932018-12-014712Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case ReportEskandar TAGHIZADEH0Hamed ABDOLKARIMI1Reza BOOSTANI2Arianeh SADRNABAVI3Cellular and Molecular Research Center, Yasuj University of Medical Sciences, Yasuj, Iran AND Dept. of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, IranDept. of Biology, Science and Research Branch, Islamic Azad University, Tehran, IranDept. of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranDept. of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran AND Dept. of Medical Genetics, Academic Centers for Education, Culture, and Research (ACECR), Mashhad, Iran AND Medical Genetic Research Center (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, IranLimb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weakness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, northwest of southern Khorasan Province, Iran reports a four years girl of autosomal recessive LGMD with proximal weakness and myopathy patterns. We detected four new alternations in this patient not reported for our population. One of them was important clinically that exists as unreported homozygous deletion encompassing exon 2 of the Sarcoglycan Beta (SGCB) gene. The use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. We used the NGS method for the first time to analysis the mutation in this family.https://ijph.tums.ac.ir/index.php/ijph/article/view/15526Limb-girdle muscular dystrophyNext-generation sequencingSarcoglycan beta gene |
| spellingShingle | Eskandar TAGHIZADEH Hamed ABDOLKARIMI Reza BOOSTANI Arianeh SADRNABAVI Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report Iranian Journal of Public Health Limb-girdle muscular dystrophy Next-generation sequencing Sarcoglycan beta gene |
| title | Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report |
| title_full | Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report |
| title_fullStr | Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report |
| title_full_unstemmed | Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report |
| title_short | Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report |
| title_sort | limb girdle muscular dystrophy with new mutation in sarcoglycan beta gene a case report |
| topic | Limb-girdle muscular dystrophy Next-generation sequencing Sarcoglycan beta gene |
| url | https://ijph.tums.ac.ir/index.php/ijph/article/view/15526 |
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