Abstract |
|
Authors | Evangelia Sotiriou, Paul Greene, Sindu Krishna, Michio Hirano, Salvatore DiMauro |
Journal | Muscle & nerve
(Muscle Nerve)
Vol. 41
Issue 5
Pg. 707-10
(May 2010)
ISSN: 1097-4598 [Electronic] United States |
PMID | 20151463
(Publication Type: Case Reports, Journal Article)
|
Chemical References |
- Genetic Markers
- Phosphoglycerate Kinase
|
Topics |
- Adult
- Age of Onset
- Brain Diseases, Metabolic, Inborn
(complications, enzymology, genetics)
- Causality
- DNA Mutational Analysis
- Gene Expression Regulation, Enzymologic
(genetics)
- Genetic Markers
- Genetic Predisposition to Disease
(genetics)
- Genotype
- Humans
- Male
- Metabolic Diseases
(complications, enzymology, genetics)
- Muscle, Skeletal
(embryology, physiopathology)
- Muscular Diseases
(enzymology, genetics, physiopathology)
- Mutation
(genetics)
- Myoglobinuria
(enzymology, etiology, physiopathology)
- Parkinsonian Disorders
(enzymology, genetics, physiopathology)
- Phosphoglycerate Kinase
(deficiency, genetics)
|