Muscle phosphorylase b kinase deficiency revisited. [electronic resource]
Producer: 20100623Description: 125-7 p. digitalISSN:- 1873-2364
- Adult
- Amino Acid Sequence -- genetics
- Biopsy
- Brain -- enzymology
- Codon, Nonsense -- genetics
- Cognition Disorders -- enzymology
- Creatine Kinase -- blood
- DNA Mutational Analysis
- Electromyography
- Exercise Tolerance -- genetics
- Glycogen Storage Disease Type V -- complications
- Humans
- Intellectual Disability -- enzymology
- Intelligence -- genetics
- Male
- Muscle Weakness -- enzymology
- Muscle, Skeletal -- enzymology
- Phosphorylase Kinase -- deficiency
- Protein Subunits -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article
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