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A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Feb 2020

Kang Zhi-Xia, Wei Xiao-Jing, Miao Jing, Gao Yan-Lu, Wang Zi-Yi, Yu Xue-Fan

Abstract excerpt

Nemaline myopathy (NEM) is a congenital myopathy that typically presents with proximal muscle weakness and hypotonia. To date, 13 genes have been associated with NEM. The Kelch repeat and BTB domain-containing protein 13 (KBTBD13) gene (KBTBD13)-related NEM is a rarely reported condition, and not a single case has been reported in Asia. Here, we report the case of a mother and daughter in China with NEM caused by...

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PMID: 31828823
DOI: 10.1111/neup.12610

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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