巴西患有LAMA2相关变症的患者的遗传特征

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Clara Gontijo Camelo1, Cristiane de Araujo Martins Moreno1, Mariana da Cunha Artilheiro1

  • 1Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.

Clinical genetics
|May 15, 2024
PubMed
概括

这项研究详细介绍了巴西LAMA2相关缩症 (LAMA2-RD) 中的基因型-表型相关性. 它确定了新型变异,并将特定突变与疾病严重程度联系起来,有助于为这种罕见的神经肌肉疾病做好未来临床试验准备.

关键词:
遗传性肌肉衰竭是一种先天性肌肉衰竭.基因型表型 基因型表型拉米宁阿尔法2 2自然历史,自然历史.

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