Myopathy and parkinsonism in phosphoglycerate kinase deficiency

Muscle and Nerve

Volumn 41, Issue 5, 2010, Pages 707-710

  Sotiriou, Evangelia ^a   Greene, Paul ^a   Krishna, Sindu ^a   Hirano, Michio ^a   DiMauro, Salvatore ^a  

^a NewYork Presbyterian Hospital   (United States)

Author keywords

Glycogen storage disease type IX; Myoglobinuria; Parkinsonism; Phosphoglycerate kinase

Indexed keywords

CARBIDOPA PLUS LEVODOPA; PHOSPHOGLYCERATE KINASE;

ACHILLES REFLEX; ADULT; ARTICLE; CASE REPORT; CERVICAL DYSTONIA; CHEMICAL ANALYSIS; ENZYME ACTIVITY; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; HAND TREMOR; HUMAN; KYPHOSIS; MALE; METABOLIC DISORDER; MUSCLE; MUSCLE BIOPSY; MUSCLE RIGIDITY; MUSCLE WEAKNESS; MYOGLOBINURIA; MYOPATHY; NEUROLOGIC EXAMINATION; PARKINSONISM; PHOSPHOGLYCERATE KINASE DEFICIENCY; PRIORITY JOURNAL; SPEECH DISORDER;

ADULT; AGE OF ONSET; BRAIN DISEASES, METABOLIC, INBORN; CAUSALITY; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; METABOLIC DISEASES; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOGLOBINURIA; PARKINSONIAN DISORDERS; PHOSPHOGLYCERATE KINASE;

EID: 77951265197     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21612     Document Type: Article

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