Related Experiment Video
Updated: Jun 16, 2026

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
Published on: December 14, 2017
Myopathy and parkinsonism in phosphoglycerate kinase deficiency
Evangelia Sotiriou1, Paul Greene, Sindu Krishna
1Department of Neurology, Columbia University Medical Center, 3-313 Russ Berrie Medical Science Pavilion, 1150 St. Nicholas Avenue, New York, New York 10032, USA.
Abstract:
A 25-year-old man with exertional myoglobinuria had no evidence of hemolytic anemia, but he had severe parkinsonism that was responsive to levodopa. Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the PGK1 gene identified the p.T378P mutation that was recently reported in a patient with isolated myopathy. This case reinforces the concept that PGK deficiency is a clinically heterogeneous disorder and raises the question of a relationship between PGK deficiency and idiopathic juvenile Parkinson disease.
More Related Videos
Related Concept Videos
Alterations in Muscle Tone lll
Parkinson Disease l: Introduction
Parkinson Disease ll: Pathophysiology
Parkinson's Disease: Overview
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Myasthenia Gravis ll: Pathophysiology

