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

A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.

Journal of the neurological sciences - 1 Apr 1999

Hadjigeorgiou G M, Kim S H, Fischbeck K H, Andreu A L, Berry G T, Bingham P, Shanske S, Bonilla E, DiMauro S

Abstract excerpt

We describe a family with a maternally inherited mitochondrial myopathy and an A3288G mutation in the tRNA(Leu(UUR)) gene. The proband had muscle cramping and mild weakness while her brother had long-standing limb and respiratory muscle weakness and her daughter had elevated serum CK. The mutation, which was nearly homoplasmic in muscle and heteroplasmic in blood, affects the TpsiC loop at a conserved site and...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mitochondria, Muscle

Share to Mitochondrial Myopathies

Share to Pedigree

Share to Polymorphism, Genetic

Share to Polymorphism, Restriction Fragment Length

Share to RNA, Transfer, Leu

Source

Identifiers

PMID: 10402027
DOI: 10.1016/s0022-510x(99)00062-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.PMID 10402027Read ↗

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.Semantic proximity Read ↗

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.Semantic proximity Read ↗

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).Semantic proximity Read ↗

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy.Semantic proximity Read ↗

Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.Semantic proximity Read ↗

A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.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 novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.Semantic proximity Read ↗

A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.Semantic proximity Read ↗

Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes.Semantic proximity Read ↗

A mitochondrial tRNA anticodon swap associated with a muscle disease.Semantic proximity Read ↗

Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene.Semantic proximity Read ↗

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