Clinical and Genetic Characteristics of Limb-Girdle Muscular Dystrophy in Iranian Patients

IF 0.4 4区 医学 Q4 PEDIATRICS Iranian Journal of Pediatrics Pub Date : 2023-11-12 DOI:10.5812/ijp-129031
Hossein Farshadmoghadam, Gholamreza Zamani, MahmoodReza Ashrafi, Ali Reza Tavasoli, Morteza Heidari
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Abstract

Background: Limb-girdle muscular dystrophy (LGMD) is a bothersome muscle disease associated with weakness of the shoulder and pelvic girdle. Objectives: The study aimed to determine the genetic diversity and relative frequency of various forms of LGMD in Iranian children. Methods: In this descriptive research, 60 children referred to the neurology or emergency department of the Pediatric Medical Center were studied from April 2019 to April 2020. Additional tests (muscle biopsy and genetic testing) were performed to confirm the diagnosis of LGMDs. Quantitative data such as disease level, motor, respiratory, and cardiac functions, and molecular data underwent statistical analysis. Results: A total of 41 patients with a mean age of 11.1 were studied. Twenty-two patients were diagnosed with genetic tests and 19 with muscle biopsies. Also, there were 26.8% cases of alpha sarcoglycanopathy, 24.4% beta sarcoglycanopathy, 17.1% gamma sarcoglycanopathy, 7.3% calpainopathy, 7.3% dysferlinopathy, 7.3% dystroglycanopathy, 7.3% titinopathy, and one case of laminopathy. Among genetically confirmed individuals, 27.3% had SGCB mutation, and 18.2% had SGCA mutation. A significant relationship was seen between the mutation type and creatine phosphokinase (CPK) levels (P < 0.05). Conclusions: The prevalence of alpha and beta sarcoglycanopathy phenotypes in the study population showed that the severity of clinical involvement may be predicted by SGCB gene mutation and sarcoglycan expression.
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伊朗患者肢带性肌营养不良症的临床和遗传特征
背景:肢带肌营养不良症(LGMD)是一种令人烦恼的肌肉疾病,与肩部和骨盆带无力有关。目的:本研究旨在确定伊朗儿童中各种形式LGMD的遗传多样性和相对频率。方法:在这项描述性研究中,对2019年4月至2020年4月在儿科医学中心神经内科或急诊科转诊的60名儿童进行了研究。进行其他检查(肌肉活检和基因检测)以确认LGMDs的诊断。定量数据,如疾病水平、运动、呼吸和心脏功能以及分子数据进行统计分析。结果:共41例患者,平均年龄11.1岁。22名患者接受了基因检测,19名患者接受了肌肉活检。此外,有26.8%的α肌糖病、24.4%的β肌糖病、17.1%的γ肌糖病、7.3%的钙痛病、7.3%的异ferlin病、7.3%的糖代谢异常病、7.3%的titin病和1例椎板病。基因确认个体中,27.3%的人有SGCB突变,18.2%的人有SGCA突变。突变类型与肌酸磷酸激酶(CPK)水平之间存在显著关系(P <0.05)。结论:研究人群中α和β型肌糖病变表型的患病率表明,临床累及的严重程度可以通过SGCB基因突变和肌糖聚糖表达来预测。
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来源期刊
CiteScore
0.90
自引率
20.00%
发文量
75
审稿时长
6-12 weeks
期刊介绍: Iranian Journal of Pediatrics (Iran J Pediatr) is a peer-reviewed medical publication. The purpose of Iran J Pediatr is to increase knowledge, stimulate research in all fields of Pediatrics, and promote better management of pediatric patients. To achieve the goals, the journal publishes basic, biomedical, and clinical investigations on prevalent diseases relevant to pediatrics. The acceptance criteria for all papers are the quality and originality of the research and their significance to our readership. Except where otherwise stated, manuscripts are peer-reviewed by minimum three anonymous reviewers. The Editorial Board reserves the right to refuse any material for publication and advises that authors should retain copies of submitted manuscripts and correspondence as the material cannot be returned. Final acceptance or rejection rests with the Editors.
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