Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.

doi:10.1111/cge.13715

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Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.

Clinical genetics - 1 May 2020

Lee Han-Chih Hencher, Wong Shun, Sheng Bun, Pan Nin-Yuan Keith, Leung Ying-Kit Frank, Lau Kwok-Kwong Dominic, Cheng Yue Sandy, Ho Luen-Cheung, Li Richard, Lee Chi-Nam, Tsoi Tak-Hong, Cheung Yuk-Fai Nelson, Fu Yat-Pang Michael, Kan Nim-Chi Amanda, Chu Yim-Pui, Au Wing-Chi Lisa, Yeung Hon-Ming Jonas, Li Siu-Hung, Cheung Chi-Fung Mark, Tong Hok-Fung, Hung Ling-Yin Esther, Chan Tina Yee-Ching, Li Chi Terence, Tong Tsz-Yan Tammy, Tong Tin-Wing Candy, Leung Ho-Ying Cory, Lee Ka-Ho, Yeung Sung-Yan Sue, Lee Sau-Yin Blanka, Lau Tze-Chin Gene, Lam Ching-Wan, Mak Chloe Miu, Chan Albert Yan-Wo

Abstract excerpt

FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the last 12 years, in whom the same pathogenic variant c.8129G>A (p.Trp2710*) was detected....

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PMID: 32022900
DOI: 10.1111/cge.13715

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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