Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue
Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue
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DOI：
10.4103/0377-4929.81636
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发表时间：
2011-04-01
影响因子：
1
通讯作者：
Shankar, S. K.
中科院分区：
文献类型：
--
作者：
Gayathri, N.;Alefia, R.;Shankar, S. K.
背景：肌营养不良症是一种常染色体隐性肢带型肌营养不良症 (AR-LGMD)，由编码肌纤维蛋白（一种肌膜蛋白）的基因缺陷引起。了解变异及其相对频率对于准确诊断至关重要。目的：研究经免疫组织化学证实的铁蛋白病病例的形态学变化谱，将研究结果与临床表型和疾病持续时间相关联并确定频率。材料和方法：对三级神经中心 2 年来观察到的铁蛋白异常病进行了分析。结果：临床上，大多数患者具有远端受累的 Miyoshi 表型（46.6%）和近端肌肉受累的 LGMD 表型（40%）。此外，还遇到了近远端和胫骨肌肉表型。在形态学上，在 Miyoshi 表型中注意到有边缘液泡。参差不齐的红色纤维、分叶状纤维和炎症的存在对特定表型没有偏好。病程较长的患者观察到明显的萎缩和分叶状纤维。结论： 铁蛋白病是 LGMD 的第二常见可识别原因 (21%)，仅次于肌聚糖病 (27%)。
Background: Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein. Awareness of the variants and their relative frequency is essential for accurate diagnosis. Aim: To study the spectrum of morphologic changes in immunohistochemically proven cases of dysferlinopathies, to correlate the findings with clinical phenotype and durations of illness and determine the frequency. Materials and Methods: Dysferlinopathies seen over a period of 2 years at a tertiary neurological center were analyzed. Results: Clinically, majority had Miyoshi phenotype (46.6%) with distal involvement and LGMD phenotype (40%) with proximal muscle involvement. In addition, a proximo-distal and tibial muscle phenotype was encountered. Morphologically, rimmed vacuoles were noted in the Miyoshi phenotype. The presence of ragged red fibers, lobulated fibers and inflammation had no preference to a particular phenotype. Significant atrophy and lobulated fibers were noted in patients with longer duration of illness. Conclusions: Dysferlinopathy was the second most common identifiable cause (21%) of LGMD next to sarcoglycanopathies (27%).