Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.

doi:10.1016/j.nmd.2008.12.004

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Article

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.

Neuromuscular disorders : NMD - 1 Mar 2009

Spiegel Ronen, Gomez Estela Area, Akman Hasan O, Krishna Sindu, Horovitz Yoseph, DiMauro Salvatore

Abstract excerpt

We describe an 18-year-old man with muscle cramps and recurrent exertional myoglobinuria, without hemolytic anemia or brain dysfunction. Phosphoglycerate kinase (PGK) deficiency was documented in muscle and erythrocytes and molecular analysis of the PGK1 gene identified a novel mutation, T378P. This is the ninth case presenting with isolated myopathy, whereas most other patients show hereditary non-spherocytic...

Topics

Adolescent
DNA Mutational Analysis
Exercise Tolerance
Genetic Markers
Genetic Predisposition to Disease
Humans
Male
Muscle Cramp
Muscle Weakness
Muscle, Skeletal
Muscular Diseases
Mutation
Myoglobinuria
Phosphoglycerate Kinase
Protein Structure, Tertiary

Source

Open in PubMed

Identifiers

PMID: 19157875
DOI: 10.1016/j.nmd.2008.12.004

Genes

PGK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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