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

Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.

Neuromuscular disorders : NMD - 1 Apr 2013

Pinós Tomàs, Melià Maria Jesús, Ortiz Nicolau, Martinez-Vea Albert, Raventós-Estellé Antoni, Gallardo Eduard, Hernández-Losa Javier, Cámara Yolanda, Andreu Antoni L, García-Arumí Elena

Abstract excerpt

We report a heteroplasmic novel mutation m.5658T>C in the mt-tRNA(Asn) gene in a patient who initially presented myopathy, bilateral ptosis and ophthalmoparesis and several years later developed a non-nephrotic proteinuria. The muscle biopsy showed cytochrome c oxidase (COX) negative and ragged red fibers and in the kidney biopsy that was taken in order to identify the causes of non-nephrotic proteinuria, a focal...

Read the complete abstract on PubMed

Topics

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

Share to Blepharoptosis
Share to Genes, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glomerulosclerosis, Focal Segmental

Share to Mitochondrial Myopathies

Share to Mutation

Share to Ophthalmoplegia

Source

Identifiers

PMID: 23375258
DOI: 10.1016/j.nmd.2013.01.001

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.PMID 23375258Read ↗

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.Semantic proximity Read ↗

Progressive external ophthalmoplegia associated with novel MT-TN mutations.Semantic proximity Read ↗

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.Semantic proximity Read ↗

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.Semantic proximity Read ↗

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.Semantic proximity Read ↗

Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.Semantic proximity Read ↗

A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.Semantic proximity Read ↗

De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.Semantic proximity Read ↗

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.Semantic proximity Read ↗

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.Semantic proximity Read ↗

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.Semantic proximity Read ↗

A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.Semantic proximity Read ↗

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