A novel missense mutation (837T→C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency

Journal of Child Neurology

Volumn 13, Issue 2, 1998, Pages 95-97

  Sugie, H ^a   Sugie, Y ^a   Ito, M ^a   Fukuda, T ^a  

^a Hamamatsu City Medical Center for Developmental Medicine   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOGLYCERATE KINASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME DEFICIENCY; GENETIC LINKAGE; HUMAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE BIOPSY; MYOPATHY; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SCHOOL CHILD; SEQUENCE ANALYSIS;

EID: 0031969489     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389801300212     Document Type: Article

References (18)