LIMB-GIRDLE MUSCULAR DYSTROPHY WITH NEW MUTATION IN SARCOGLYCAN BETA GENE: A CASE REPORT

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TAGHIZADEH ESKANDAR; ABDOLKARIMI HAMED; BOOSTANI REZA; SADRNABAVI ARIANEH

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Journal Paper

Paper Information

Journal: Iranian Journal of Public Health Year:2018 | Volume:47 | Issue:12 Page(s): 1953-1957

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Title

LIMB-GIRDLE MUSCULAR DYSTROPHY WITH NEW MUTATION IN SARCOGLYCAN BETA GENE: A CASE REPORT

Author(s)

TAGHIZADEH ESKANDAR | ABDOLKARIMI HAMED | BOOSTANI REZA | SADRNABAVI ARIANEH | Issue Writer Certificate

Keywords

LIMB-GIRDLE MUSCULAR DYSTROPHY

NEXT-GENERATION SEQUENCING

SARCOGLYCAN BETA GENE

Abstract

Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weak-ness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, north-west 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 popula-tion. 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.

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APA: Copy

TAGHIZADEH, ESKANDAR, ABDOLKARIMI, HAMED, BOOSTANI, REZA, & SADRNABAVI, ARIANEH. (2018). LIMB-GIRDLE MUSCULAR DYSTROPHY WITH NEW MUTATION IN SARCOGLYCAN BETA GENE: A CASE REPORT. IRANIAN JOURNAL OF PUBLIC HEALTH, 47(12), 1953-1957. SID. https://sid.ir/paper/274813/en

Vancouver: Copy

TAGHIZADEH ESKANDAR, ABDOLKARIMI HAMED, BOOSTANI REZA, SADRNABAVI ARIANEH. LIMB-GIRDLE MUSCULAR DYSTROPHY WITH NEW MUTATION IN SARCOGLYCAN BETA GENE: A CASE REPORT. IRANIAN JOURNAL OF PUBLIC HEALTH[Internet]. 2018;47(12):1953-1957. Available from: https://sid.ir/paper/274813/en

IEEE: Copy

ESKANDAR TAGHIZADEH, HAMED ABDOLKARIMI, REZA BOOSTANI, and ARIANEH SADRNABAVI, “LIMB-GIRDLE MUSCULAR DYSTROPHY WITH NEW MUTATION IN SARCOGLYCAN BETA GENE: A CASE REPORT,” IRANIAN JOURNAL OF PUBLIC HEALTH, vol. 47, no. 12, pp. 1953–1957, 2018, [Online]. Available: https://sid.ir/paper/274813/en

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