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Article

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.

Human molecular genetics - 1 Jun 2008

Olsson Angelica, Lind Lisbet, Thornell Lars-Eric, Holmberg Monica

Abstract excerpt

We describe the mapping and identification of the gene for hereditary myopathy with lactic acidosis (HML). HML is characterized by low physical performance, resulting in physical exertion that causes early exhaustion, dyspnoea and palpitations. Using an autosomal recessive mode of inheritance, we mapped the trait to chromosome 12q23.3-24.11, with a maximum lod score of 5.26. The 1.6-Mb disease-critical region...

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Share to Acidosis, Lactic
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enhancer Elements, Genetic

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Share to Iron-Sulfur Proteins

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Source

Identifiers

PMID: 18296749
DOI: 10.1093/hmg/ddn057

Genes

ISCU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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