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

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center.

Acta neurologica Belgica - 1 Feb 2024

Haidong Lv, Yin Liu, Ping Chen, Xianzhao Zheng, Qi Qian, Xiaoli Ma, Zheng Lv, Wenhao Cui, Yaguang Zhou, Qianqian Qu

Abstract excerpt

BACKGROUND: Nemaline myopathy, the most common of the congenital myopathies, is caused by various genetic mutations. In this study, we attempted to investigate the clinical features, muscle pathology and genetic features of 15 patients with nemaline myopathy. RESULTS: Among the 15 patients, there were 9 (60.00%) males and 6 (40.00%) females, and 9 (60.00%) of them came from three families respectively. The age of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Mutation

Share to Myopathies, Nemaline

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 37525074
DOI: 10.1007/s13760-023-02333-8
PMCID: PMC10874337

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center.PMID 37525074Read ↗

Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.Semantic proximity Read ↗

Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.Semantic proximity Read ↗

Nemaline myopathies.Semantic proximity Read ↗

Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea.Semantic proximity Read ↗

Nemaline myopathies: a current viewSemantic proximity Read ↗

A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.Semantic proximity Read ↗

Recent advances in nemaline myopathy.Semantic proximity Read ↗

Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.Semantic proximity Read ↗

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.Semantic proximity Read ↗

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.Semantic proximity Read ↗

Recent advances in nemaline myopathy.Semantic proximity Read ↗

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.Semantic proximity Read ↗

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