Dysferlinopathies are a group of limb-girdle muscular dystrophies causing significant disability in the young population. There is a need for studies on large cohorts to describe the clinical, genotypic and natural history in our subcontinent. To describe and correlate the clinical, genetic profile and natural history of genetically confirmed dysferlinopathies. We analysed a retrospective cohort of patients with dysferlinopathy from a single quaternary care centre in India. A total of 124 patients with dysferlinopathy were included (40 females). Median age at onset and duration of illness were 21 years (range, 13–50) and 48 months (range, 8–288), respectively. The average follow-up period was 60 months (range, 12–288). Fifty-one percent had LGMD pattern of weakness at onset; 23.4% each had Miyoshi and proximo-distal type while isolated hyperCKemia was noted in 1.6%. About 60% were born to consanguineous parents and 26.6% had family history of similar illness. Twenty-three patients (18.6%) lost ambulation at follow-up; the median time to loss of independent ambulation was 120 months (range, 72–264). Single-nucleotide variants (SNVs) constituted 78.2% of patients; INDELs 14.5% and 7.3% had both SNVs and INDELs. Earlier age at onset was noted with SNVs. There was no correlation between the other clinical parameters and ambulatory status with the genotype. Thirty-seven (45.7%) novel pathogenic/likely pathogenic (P/LP) variants were identified out of a total of 81 variations. The c.3191G > A variant was the most recurrent mutation. Our cohort constitutes a clinically and genetically heterogeneous group of dysferlinopathies. There is no significant correlation between the clinico-genetic profile and the ambulatory status.

肌铁蛋白病是一组肢带型肌营养不良症，会导致年轻人严重残疾。需要对大型队列进行研究，以描述我们次大陆的临床、基因型和自然史。描述和关联经基因证实的铁蛋白异常症的临床、遗传概况和自然史。我们分析了来自印度单一四级护理中心的铁蛋白异常症患者的回顾性队列。总共包括 124 名患有铁蛋白异常症的患者（40 名女性）。发病和病程的中位年龄分别为 21 岁（范围 13-50）和 48 个月（范围 8-288）。平均随访期为 60 个月（范围 12-288）。51% 的患者在发病时有 LGMD 无力模式；23. 4% 的患者分别患有 Miyoshi 型和近端-远端型，而孤立的高 CKemia 患者占 1.6%。约 60% 为近亲所生，26.6% 有类似疾病的家族史。23 名患者 (18.6%) 在随访中无法下地行走；丧失独立行走的中位时间为 120 个月（范围，72-264）。单核苷酸变异 (SNV) 占患者的 78.2%；14.5% 和 7.3% 的 INDEL 同时具有 SNV 和 INDEL。SNV 注意到发病年龄较早。其他临床参数和动态状态与基因型之间没有相关性。从总共 81 个变异中鉴定出 37 个 (45.7%) 新的致病/可能致病 (P/LP) 变异。c.3191G > A 变体是最常见的突变。我们的队列构成了一组临床和遗传异质性铁蛋白异常病。