Article

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

2022-02-24

Abstract excerpt

<title>Abstract</title> <p>Homozygous or compound heterozygous variants in the <italic>KLHL40</italic> gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokinesia, joint contractures, fractures, respiratory failure and dysphagia. Currently, 46 individuals with NEM8 have been described in the literature, and 30 variants...

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Literature Corpus work: 4da74a4c-07e4-58de-8acc-6546a619dba7
DOI: 10.21203/rs.3.rs-1270672/v1

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