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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Tehran University of Medical Sciences
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379601/ https://www.ncbi.nlm.nih.gov/pubmed/30788312 |
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author | TAGHIZADEH, Eskandar ABDOLKARIMI, Hamed BOOSTANI, Reza SADRNABAVI, Arianeh |
author_facet | TAGHIZADEH, Eskandar ABDOLKARIMI, Hamed BOOSTANI, Reza SADRNABAVI, Arianeh |
author_sort | TAGHIZADEH, Eskandar |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-6379601 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Tehran University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-63796012019-02-20 Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report TAGHIZADEH, Eskandar ABDOLKARIMI, Hamed BOOSTANI, Reza SADRNABAVI, Arianeh Iran J Public Health 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 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. Tehran University of Medical Sciences 2018-12 /pmc/articles/PMC6379601/ /pubmed/30788312 Text en Copyright© Iranian Public Health Association & Tehran University of Medical Sciences http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report TAGHIZADEH, Eskandar ABDOLKARIMI, Hamed BOOSTANI, Reza SADRNABAVI, Arianeh Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report |
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 | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379601/ https://www.ncbi.nlm.nih.gov/pubmed/30788312 |
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