Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients.

Journal of human genetics - 1 Jul 2023

Lin Ying, Ban Rui, Qiao Lingya, Chen Juan, Liu Mengyang, Liu Jiaqi, Shi Qiang

Abstract excerpt

Mutations in the FHL1 gene can be associated with a variety of X-linked myopathies and cardiomyopathies, among which X-linked dominant scapuloperoneal myopathy is a rare phenotype. We collected the clinical data of two unrelated Chinese patients with X-linked scapuloperoneal myopathy and analyzed their clinical, pathological, muscle imaging, and genetic features. Both patients were characterized by scapular...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to East Asian People
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to LIM Domain Proteins

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Muscular Dystrophy, Emery-Dreifuss

Share to Mutation

Source

Identifiers

PMID: 36864287
DOI: 10.1038/s10038-023-01138-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients.PMID 36864287Read ↗

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.Semantic proximity Read ↗

Consequences of mutations within the C terminus of the FHL1 gene.Semantic proximity Read ↗

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.Semantic proximity Read ↗

Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.Semantic proximity Read ↗

Reducing body myopathy and other FHL1-related muscular disorders.Semantic proximity Read ↗

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.Semantic proximity Read ↗

Clinical and genetic characteristics of Chinese patients with reducing body myopathy.Semantic proximity Read ↗

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.Semantic proximity Read ↗

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.Semantic proximity Read ↗

Novel FHL1 mutation in a family with reducing body myopathySemantic proximity Read ↗

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).Semantic proximity Read ↗

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.