TY - JOUR A2 - 莫里森，帕特里克AU - 迪尼兹，荷兰盾AU - 铣国勒姆，Hulya AU - Gokben，Sarenur AU - Serdaroglu，古尔AU - 哈杉，菲利兹AU - Yararbas，Kanay AU - Tukun，阿吉兰PY消息 - 2014年DA消息 - 2014年/ 6月22日TI - 伴随α-和伽玛肌聚糖缺陷在土耳其男孩与新缺失在α肌聚糖基因SP - 248561 VL - 2014 AB - 肢带型肌营养不良2D（LGMD-2D）引起通过在位于染色体17q21上所述α-肌聚糖基因常染色体隐性遗传缺陷。在这项研究中，我们提出与α-sarcoglycanopathy一个孩子，在alpha肌聚糖基因描述了一种新的缺失。一个5岁的男孩有一个非常高的血清肌酸磷酸激酶水平，这是偶然决定，并为肌营养不良蛋白基因负分子测试。肌肉活检显示营养不良的特征。免疫组化显示，有α-和伽玛sarcoglycans减少的表达。DNA analysis revealed a novel 7 bp homozygous deletion in exon 3 of the alpha-sarcoglycan gene. His parents were consanguineous heterozygous carriers of the same deletion. We believe this is the first confirmed case of primary alpha-sarcoglycanopathy with a novel deletion in Turkey. In addition, this study demonstrated that both muscle biopsy and DNA analysis remain important methods for the differential diagnosis of muscular dystrophies because dystrophinopathies and sarcoglycanopathies are so similar. SN - 2090-6544 UR - https://doi.org/10.1155/2014/248561 DO - 10.1155/2014/248561 JF - Case Reports in Genetics PB - Hindawi Publishing Corporation KW - ER -