English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Open

To the Editor: The human four and a half LIM domain 1 (FHL1) gene, located on Xq26.3, encodes for a protein with only LIM domains. LIM domains, named after their initial discovery in the proteins Lin11, Isl-1, and Mec-3, are cysteine-rich protein motifs composed of two contiguous zinc finger domains separated by a two-amino acid residue hydrophobic linker. At least three splice patterns have been identified, resulting in three protein isoforms: FHL1A with four and a half LIM repeats, FHL1B with three and a half repeats, and FHL1C with two and a half repeats. All isoforms are highly expressed in skeletal muscle and heart, where they are reported to play multiple roles in cell growth and function. Mutations of FHL1 gene could cause a series of diseases characterized by cardiac defects and/or skeletal muscle abnormalities.[1] Recently, the FHL1 gene has been identified as one of the causative genes of hypertrophic cardiomyopathy (HCM).[2] HCM is characterized by asymmetric left ventricular (LV) hypertrophy and diastolic dysfunction. The phenotype ranged from asymptomatic to dyspnea, heart failure, syncope, and sudden death. Here we report a Chinese male with HCM and mild skeletal muscle hypertrophy who was identified with a novel FHL1 mutation.

chinese medical journal

Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy