Lactate dehydrogenase M-subunit deficiencies: clinical features, metabolic background, and genetic heterogeneities.

doi:10.1002/mus.880181413

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Article

Lactate dehydrogenase M-subunit deficiencies: clinical features, metabolic background, and genetic heterogeneities.

Muscle & nerve. Supplement - 1 Jan 1995

Kanno T, Maekawa M

Abstract excerpt

Lactate dehydrogenase M-subunit deficiency was first reported 1980 as an exertional myoglobinuria. Since then, 6 Japanese and 3 Caucasian families have been reported. Also, typical skin lesions were observed in 1 Japanese patient. Since then, 2 families, one Japanese and one Caucasian, have been found with this typical skin eruption. The metabolic background of exertional myoglobinuria was demonstrated as a...

Topics

Adolescent
Adult
Base Sequence
DNA
Exercise
Female
Glyceraldehyde-3-Phosphate Dehydrogenases
Glycolysis
Humans
L-Lactate Dehydrogenase
Lactates
Lactic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Myoglobinuria

NAD

Oxidation-Reduction

Source

Open in PubMed

Identifiers

PMID: 7603529
DOI: 10.1002/mus.880181413

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7603529-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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