Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L
Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L
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DOI：
10.1002/mus.23542
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发表时间：
2013-02-01
期刊：
影响因子：
3.4
通讯作者：
Gruis, Kirsten L.
中科院分区：
文献类型：
--
作者：
Little, Ann A.;Mckeever, Paul E.;Gruis, Kirsten L.
简介：我们介绍了一名约旦男子，其具有典型的 LGMD 2L 表型，即早期不对称的股四头肌无力和随后的肱二头肌无力。方法：病例报告。结果：肌肉活检记录了进行性营养不良模式，与已知的肌营养不良相关肌膜缺陷无关。基因检测揭示了新的杂合子 Anoctamin 5 基因突变。结论：本病例报告扩展了导致 LGMD 2L 的已知突变，并支持 Anoctamin 5 突变比之前认识到的更普遍的说法。肌肉神经 47: 287-291, 2013
Introduction: We present a Jordanian man with the typical LGMD 2L phenotype of early, asymmetric quadriceps weakness and subsequent biceps brachii weakness. Methods: Case report. Results: Muscle biopsies document a progressive dystrophic pattern unrelated to known sarcolemmal defects associated with muscular dystrophy. Genetic testing revealed novel, heterozygote Anoctamin 5 gene mutations. Conclusions: This case report expands the known mutations resulting in LGMD 2L and supports the assertion that Anoctamin 5 mutations are more prevalent than previously recognized. Muscle Nerve 47: 287-291, 2013