Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.
Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.
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DOI：
10.1155/2018/3710814
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发表时间：
2018
影响因子：
--
通讯作者：
Yuan Y
中科院分区：
文献类型：
--
作者：
Xie Z;Xiao J;Zheng Y;Wang Z;Yuan Y
肢带型肌营养不良症 2I 型 (LGMD2I) 是一种常染色体隐性遗传性肌营养不良症，在亚洲罕见，由 fukutin 相关蛋白基因 (FKRP) 突变引起。本研究的目的是确定 FKRP 中携带创始人突变 c.545A>G 的 LGMD2I 患者的磁共振成像 (MRI) 是否存在任何肌肉特征。使用 MRI，我们描绘了 10 名基因确诊 LGMD2I 患者的大腿肌肉变化。大多数肌肉活检标本显示 α-肌营养不良聚糖糖基化减少、层粘连蛋白 α2 表达减少以及营养不良模式。在我们的队列中，脂肪浸润最严重的肌肉是大收肌和股中间肌，而股直肌、缝匠肌和股薄肌相对较少。在七名患者中，我们发现了同心脂肪浸润模式，该模式在股骨远端骨干周围的股中间肌和股内侧肌中最为明显。在这种疾病中，无论 FKRP 的创始人突变如何，大腿后部肌肉的最初脂肪浸润逐渐向前发展。 FKRP 中具有创始人突变 c.545A>G 的 LGMD2I 患者的肌肉组织在 MRI 上显示出独特的同心圆模式的脂肪浸润和水肿。
Limb girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy that is rare in Asia and is caused by mutations in the fukutin-related protein gene (FKRP). The aim of this study was to determine if there are any characteristic features of muscle on magnetic resonance imaging (MRI) in patients with LGMD2I harboring the founder mutation c.545A>G in FKRP. Using MRI, we delineated changes in the thigh muscles of ten patients with genetically confirmed LGMD2I. The majority of muscle biopsy specimens showed reduced glycosylation of α-dystroglycan, decreased expression of laminin α2, and a dystrophic pattern. In our cohort, the muscles with the most severe fatty infiltration were adductor magnus and vastus intermedius, whereas the rectus femoris, sartorius, and gracilis muscles were relatively spared. In seven patients, we identified a concentric fatty infiltration pattern that was most pronounced in the vastus intermedius and vastus medialis muscles around the distal femoral diaphysis. In this disease, the initial fatty infiltration of the posterior thigh muscles gradually progresses anteriorly regardless of the founder mutation in FKRP. Muscle tissue in patients with LGMD2I who have the founder mutation c.545A>G in FKRP shows a distinctive concentric pattern of fatty infiltration and edema on MRI.
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DOI：
10.1083/jcb.122.4.809
发表时间：
1993-08
期刊：
The Journal of cell biology
影响因子：
--
作者：
Ervasti JM;Campbell KP
通讯作者：
Campbell KP
影响因子：
2.8
作者：
Mercuri, E;Talim, B;Merlini, L
通讯作者：
Merlini, L
影响因子：
2.8
作者：
Müller, T;Krasnianski, M;Zierz, S
通讯作者：
Zierz, S
影响因子：
--
作者：
Boito, CA;Melacini, P;Pegoraro, E
通讯作者：
Pegoraro, E
影响因子：
9.9
作者：
Poppe, M;Cree, L;Bushby, K
通讯作者：
Bushby, K