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 Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L.

Journal of clinical neuromuscular disease - 1 Jun 2018

Peddareddygari Leema Reddy, Oberoi Kinsi, Baisre-De Leon Ada, Grewal Raji P

Abstract excerpt

We report a 49-year-old man who presented with a history of asymmetric weakness. His neurological examination and electromyogram testing suggested the presence of a myopathy. A muscle biopsy confirmed the presence of a myopathy with several lobulated, whorled and ring fibers, and it showed no evidence of inflammation. Genetic testing of more than 50 genes known to cause myopathy was performed and demonstrates the...

Topics

Join the communities discussing this publication.

Anoctamins
Creatine Kinase
Genetic Testing
Magnetic Resonance Imaging
Muscular Dystrophies, Limb-Girdle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29794579
DOI: 10.1097/CND.0000000000000202

Genes

ANO5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L.PMID 29794579Read ↗

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

Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.Semantic proximity Read ↗

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

Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.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 related muscle disease: clinical and genetic findings in a large European cohort.Semantic proximity Read ↗

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

Clinical and genetic features of anoctaminopathy in Saudi Arabia.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 ↗

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

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