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

Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Sept 2009

Marotta Rosetta, Reardon Katrina, McKelvie Penny A, Chiotis Maria, Chin Judy, Cook Mark, Collins Steven J

Abstract excerpt

A patient with a known family history of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) due to the MT-TL1 m.3243A>G mutation presented with mild myalgia and very minor upper limb proximal muscle weakness. Muscle histology revealed low levels of cytochrome oxidase-negative fibres and non-specific myositis. Using the last "hot cycle" polymerase chain reaction (PCR)-restriction...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MELAS Syndrome

Share to Muscle, Skeletal

Share to Mutation

Share to Polymorphism, Restriction Fragment Length

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 19502062
DOI: 10.1016/j.jocn.2008.11.012

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

Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection.PMID 19502062Read ↗

Clinical and genetic features in a MELAS child with a 3271T>C mutation.Semantic proximity Read ↗

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.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 ↗

A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.Semantic proximity Read ↗

Progressive Myopathy and Respiratory Failure in a 7-Year-Old Boy With m.3251A>G MT-TL1 Mutation.Semantic proximity Read ↗

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.Semantic proximity Read ↗

MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.Semantic proximity Read ↗

Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome.Semantic proximity Read ↗

Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature.Semantic proximity Read ↗

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.Semantic proximity Read ↗

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.Semantic proximity Read ↗

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.Semantic proximity Read ↗

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