Congenital myopathies are clinically and genetically heterogeneous, resulting from mutations in at least 30 different genes.¹ The classical presentation is neonatal hypotonia and nonprogressive weakness with normal creatine phosphokinase, although there is a broad range in terms of age at onset and clinical presentation. Historically, congenital myopathies have been defined and diagnosed based on muscle biopsy. However, with advances in genomics, genetics have taken primacy in the diagnostic pathway.²

中文翻译：

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HACD1中的双等位基因LINE插入突变会导致先天性肌病。

先天性肌病在临床和遗传上是异质的，是由至少30个不同基因的突变引起的。¹经典表现是新生儿肌张力减退和肌酸磷酸激酶正常的非进行性肌无力，尽管发病年龄和临床表现差异很大。历史上，先天性肌病是根据肌肉活检确定和诊断的。但是，随着基因组学的发展，遗传学已成为诊断途径中的首要问题。²