The Experts below are selected from a list of 108 Experts worldwide ranked by ideXlab platform

Jerzy Macioszek - One of the best experts on this subject based on the ideXlab platform.

Louise E. Anderson - One of the best experts on this subject based on the ideXlab platform.

Jacky L Snoep - One of the best experts on this subject based on the ideXlab platform.

Salvatore Dimauro - One of the best experts on this subject based on the ideXlab platform.

  • myopathy and parkinsonism in Phosphoglycerate Kinase deficiency
    Muscle & Nerve, 2010
    Co-Authors: Evangelia Sotiriou, Paul Greene, Sindu Krishna, Michio Hirano, Salvatore Dimauro
    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. Muscle Nerve, 2010

Natalia K. Nagradova - One of the best experts on this subject based on the ideXlab platform.