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

Neuromuscular Disorders

Volumn 19, Issue 3, 2009, Pages 207-211

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

^a HAEMEK MEDICAL CENTER   (Israel)

^b New York Presbyterian Morgan Stanley Children's Hospital   (United States)

Author keywords

Glycogen storage disease type IX; Myoglobinuria; Myopathy; PGK; Phosphoglycerate kinase

Indexed keywords

CREATINE KINASE; GENOMIC DNA; HEMOGLOBIN; PHOSPHOGLYCERATE KINASE;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; ENZYME DEFICIENCY; GENE; GENE MUTATION; HUMAN; MALE; MOLECULAR GENETICS; MUSCLE CRAMP; MYOGLOBINURIA; MYOPATHY; PGK1 GENE; PHOSPHOGLYCERATE KINASE DEFICIENCY; PRIORITY JOURNAL; PROTEIN STRUCTURE; SEQUENCE ANALYSIS;

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;

EID: 61849183643     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.12.004     Document Type: Article

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