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

Novel SPEG variant cause centronuclear myopathy in China

18 Oct 2019

Abstract excerpt

BACKGROUND: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported. METHODS: A radiograph test, ultrasonic test, and...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Caveolin-1 and cellular processes
Share to Muscle Physiology and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31625632
DOI: 10.1002/jcla.23054

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel SPEG variant cause centronuclear myopathy in ChinaPMID 31625632Read ↗

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.Semantic proximity Read ↗

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.Semantic proximity Read ↗

Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.Semantic proximity Read ↗

A review of major causative genes in congenital myopathies.Semantic proximity Read ↗

Congenital myopathies.Semantic proximity Read ↗

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.Semantic proximity Read ↗

An Overview of Congenital Myopathies.Semantic proximity Read ↗

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of two children with X-linked Centronuclear myopathy due to variants of MTM1 gene].Semantic proximity Read ↗

DNM2 mutations in Chinese Han patients with centronuclear myopathy.Semantic proximity Read ↗

Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.Semantic proximity Read ↗

Gene analysis and clinical features of 22 GNE myopathy patients.Semantic proximity Read ↗

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