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Article

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.

The Journal of clinical investigation - 1 May 1993

Morisaki H, Morisaki T, Newby L K, Holmes E W

Abstract excerpt

Approximately 2% of Caucasians and African-Americans are homozygous for a nonsense mutation in exon 2 of the AMPD1 (AMP deaminase) gene. These individuals have a high grade deficiency of AMPD activity in their skeletal muscle. More than 100 patients with AMPD1 deficiency have been reported to have symptoms of a metabolic myopathy, but it is apparent many individuals with this inherited defect are asymptomatic...

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Source

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Identifiers

PMID: 8486786
DOI: 10.1172/JCI116455
PMCID: PMC288231

Genes

AMPD1

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.PMID 8486786Read ↗

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.Semantic proximity Read ↗

Positive and negative elements mediate control of alternative splicing in the AMPD1 gene.Semantic proximity Read ↗

Exon recognition and nucleocytoplasmic partitioning determine AMPD1 alternative transcript production.Semantic proximity Read ↗

Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiencySemantic proximity Read ↗

Molecular biology of AMP deaminase deficiency.Semantic proximity Read ↗

Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons.Semantic proximity Read ↗

Identification of functional domains in AMPD1 by mutational analysis.Semantic proximity Read ↗

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.Semantic proximity Read ↗

Tissue-specific splicing of a ubiquitously expressed transcription factor is essential for muscle differentiation.Semantic proximity Read ↗

[Family of AMP-deaminase genes].Semantic proximity Read ↗

[Can mutation of the AMPD1 gene encoding human deaminase muscle muscle isozyme AMP be a prognostic marker of primary dilated cardiomyopathy?].Semantic proximity Read ↗

Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.Semantic proximity Read ↗

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