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

Muscle biopsy and MRI findings in ANO5-related myopathy.

Muscle & nerve - 1 Dec 2021

Holm-Yildiz Sonja, Witting Nanna, de Stricker Borch Josefine, Kass Konni, Khawajazada Tahmina, Krag Thomas, Vissing John

Abstract excerpt

INTRODUCTION/AIMS: Mutations in the anoctamin 5 (ANO5) gene are a common cause of muscular dystrophy. We aimed to investigate whether inflammatory changes in muscle are present in patients with ANO5 myopathy when assessed by muscle biopsy and muscle magnetic resonance imaging (MRI). METHODS: Adults with pathogenic variations in ANO5 known to cause muscular dystrophy were included in our study. Muscle biopsies of...

Read the complete abstract on PubMed

Topics

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

Share to Anoctamins
Share to Biopsy
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Muscles

Share to Muscular Diseases

Share to Mutation

Source

Identifiers

PMID: 34550615
DOI: 10.1002/mus.27419

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Muscle biopsy and MRI findings in ANO5-related myopathy.PMID 34550615Read ↗

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.Semantic proximity Read ↗

Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.Semantic proximity Read ↗

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.Semantic proximity Read ↗

Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.Semantic proximity Read ↗

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.Semantic proximity Read ↗

Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.Semantic proximity Read ↗

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.Semantic proximity Read ↗

Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.Semantic proximity Read ↗

Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.Semantic proximity Read ↗

A new distal myopathy with mutation in anoctamin 5.Semantic proximity Read ↗

Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.Semantic proximity Read ↗

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.Semantic proximity Read ↗

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