Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene
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- 作者：Mahsa Fadaeea ; b ; Ariana Kariminejadb ; Zohreh Fattahia ; b ; Shahriar Nafissic ; Hamed Reza Godarzid ; g ; Maryam Beheshtiana ; b ; Raheleh Vazehanb ; Mohammad Reza Akbarie ; f ; Kimia Kahrizia ; Hossein Najmabadia ; b ; hnajm12@yahoo.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Calpain3 ; CAPN3 ; Muscular dystrophy ; Limb-girdle ; Whole exome sequencing ; Iran
- 刊名：Neuromuscular Disorders
- 出版年：2016
- 出版时间：April-May 2016
- 年：2016
- 卷：26
- 期：4-5
- 页码：277-282
- 全文大小：1128 K
文摘
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Whole exome sequencing (WES) was performed for 6 unrelated Iranian probands diagnosed with a kind of muscular disorder.
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Mutations in CAPN3 gene were detected for these individuals.
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One was a novel homozygous 6 bp deletion (c.795_800delCATTGA) in exon 5 of the CAPN3 gene.
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This is the first limb-girdle muscular dystrophy type 2A (LGMD2A) study in Iranian population.