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经常出现的CAPN3 p.Asp753Asn变体支持具有可变临床表现力的潜在主导性痛症

Giorgia D'Este1, Alejandro Giorgetti2, Denise Cassandrini3,4

  • 1Neurobiology Laboratory, San Camillo IRCCS, Via Alberoni 70, 30126 Venezia, Italy.

International journal of molecular sciences
|December 11, 2025
PubMed
概括

一种常见的肢体带肌肉缩 (LGMD) 突变,在CAPN3中的p.Asp753Asn,会导致从轻微的软弱到无症状的高肌酸酶的各种症状. 需要进一步的研究来证实其主导负效应.

关键词:
这就是CAPN3的目的.骨头疼痛症 (calpainopathy) 是一种疼痛症.占主导地位的继承权.肢体-腰带肌肉发育不良症 肌肉发育不良症

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