Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy. [electronic resource]
Producer: 19941011Description: 47-58 p. digitalISSN:- 0393-5264
- Adolescent
- Biopsy
- Brain -- enzymology
- Chromosome Aberrations
- Chromosome Disorders
- Family Health
- Female
- Glycogen Storage Disease -- diagnosis
- Humans
- Isoenzymes
- Male
- Microscopy, Electron
- Middle Aged
- Mitochondria, Muscle
- Muscles -- cytology
- Pedigree
- Phosphoglycerate Mutase -- deficiency
- Spectrophotometry
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Publication Type: Case Reports; Journal Article
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