Fanin Marina, Angelini Corrado
Department of Neurosciences, Biomedical Campus "Pietro d'Abano," via Giuseppe Orus 2B, 35129, Padova, Italy.
Fondazione Ospedale San Camillo IRCCS, Venice, Italy.
Muscle Nerve. 2015 Aug;52(2):163-73. doi: 10.1002/mus.24682. Epub 2015 May 29.
Limb girdle muscular dystrophy type 2A (LGMD2A) is the most frequent form of LGMD worldwide. Comprehensive clinical assessment and laboratory testing is essential for diagnosis of LGMD2A. Muscle immunoblot analysis of calpain-3 is the most useful tool to direct genetic testing, as detection of calpain-3 deficiency has high diagnostic value. However, calpain-3 immunoblot testing lacks sensitivity in about 30% of cases due to gene mutations that inactivate the enzyme. The best diagnostic strategy should be determined on a case-by-case basis, depending on which tissues are available, and which molecular and/or genetic methods are adopted. In this work we survey the current knowledge, advantages, limitations, and pitfalls of protein testing and mutation detection in LGMD2A and provide an update of genetic epidemiology.
2A型肢带型肌营养不良症（LGMD2A）是全球最常见的LGMD类型。全面的临床评估和实验室检测对于LGMD2A的诊断至关重要。钙蛋白酶-3的肌肉免疫印迹分析是指导基因检测最有用的工具，因为检测到钙蛋白酶-3缺乏具有很高的诊断价值。然而，由于使该酶失活的基因突变，钙蛋白酶-3免疫印迹检测在约30%的病例中缺乏敏感性。最佳诊断策略应根据具体情况确定，这取决于可获得哪些组织以及采用哪些分子和/或基因方法。在这项工作中，我们调查了LGMD2A中蛋白质检测和突变检测的现有知识、优势、局限性和陷阱，并提供了遗传流行病学的最新情况。
