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

[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].

Der Nervenarzt - 1 Dec 2011

Deschauer M, Joshi P R, Gläser D, Hanisch F, Stoltenburg G, Zierz S

Abstract excerpt

Recessive mutations in the anoctamin 5 (ANO5) gene have been recently identified in families with limb girdle muscular dystrophy (LGMD2L) and distal non-dysferlin Miyoshi myopathy. Anoctamin 5 is supposed to be a putative calcium-activated chloride channel. We report five German patients (four index patients) with muscle dystrophy due to mutations in the ANO5 gene. Sequencing of the ANO5 exons 5, 13 and 20 was...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Anoctamins
Share to Chloride Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Muscular Dystrophies

Share to Mutation

Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 21739273
DOI: 10.1007/s00115-011-3325-4

Genes

ANO5

Variants

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

[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].PMID 21739273Read ↗

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.Semantic proximity Read ↗

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

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

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

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.Semantic proximity Read ↗

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

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.Semantic proximity Read ↗

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.Semantic proximity Read ↗

Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L.Semantic proximity Read ↗

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

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