Adult-onset exercise intolerance due to phosphorylase b kinase deficiency

Journal of Clinical Neuroscience

Volumn 8, Issue 3, 2001, Pages 286-287

  Bak, Haesung ^a   Cordato, Dennis ^a   Carey, William F ^b   Milder, Dan ^a  

^a BANKSTOWN LIDCOMBE HOSPITAL   (Australia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE; PHOSPHORYLASE KINASE;

ADULT; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; EXERCISE; HISTOCHEMISTRY; HUMAN; MALE; MUSCLE BIOPSY; MYALGIA; ONSET AGE; PRIORITY JOURNAL;

EID: 0034995885     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1054/jocn.1999.0230     Document Type: Article

References (16)

1. Metabolic myopathies
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4. Glycolytic defects in muscle: Aspects of collaboration between basic science and clinical medicine
5. Biochemistry and molecular genetics of human glycogenolysis: An overview
6. Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency
7. Phosphorylase b kinase deficiency in man: A review
8. Phosphofructokinase deficiency: Recent advances in molecular biology
9. Adult phosphorylase b kinase deficiency
10. cDNA cloning of a liver isoform of the phosphorylase kinase α subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenolysis
11. Localisation of the gene encoding the catalytic γ subunit of phosphorylase kinase to human chromosome bands 7p12-q21
12. Assignment of human genes for phosphorylase kinase subunits (PHKA) to Xq12-q13 and (PHKB) to 16q12-q13
13. Adult muscle phosphorylase b kinase deficiency
14. Clinical and biochemical heterogeneity of phosphorylase kinase deficiency
15. Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency
16. A splice junction mutation in the αM gene of phosphorylase kinase in a patient with myopathy