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

Clinical and genetic features of anoctaminopathy in Saudi Arabia.

Neurosciences (Riyadh, Saudi Arabia) - 1 Apr 2015

Bohlega Saeed, Monies Dorothy M, Abulaban Ahmad A, Murad Hatem N, Alhindi Hindi N, Meyer Brian F

Abstract excerpt

OBJECTIVE: Characterization of the phenotypic, pathological, radiological, and genetic findings in 2 Saudi Arabian families with anoctaminopathies, and limb girdle muscular dystrophy type 2L (LGMD2L). METHODS: Over a 2-year period from December 2010 to January 2013, the clinical presentations were analyzed and all genes responsible for limb girdle muscular dystrophy (LGMD) were screened in families seen at King...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Arabs
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exercise Tolerance

Share to Gene Deletion

Share to Muscle, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

Share to Saudi Arabia

Source

Open in PubMed Open full text

Identifiers

PMID: 25864073
DOI: 10.17712/nsj.2015.2.20140547
PMCID: PMC4727640

Genes

ANO5

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

Clinical and genetic features of anoctaminopathy in Saudi Arabia.PMID 25864073Read ↗

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

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.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 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.Semantic proximity Read ↗

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

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

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

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

Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.Semantic proximity Read ↗

A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.Semantic proximity Read ↗

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

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