[Muscle biopsy (author's transl)].
Modern morphological diagnostic methods for neuromuscular diseases are based on enzyme histological and electron microscopic techniques. By enzyme histochemical differentiation of fiber types, early morphological changes such as Type I atrophy in myotonic dystrophy, or particular disease forms like Type II atrophy or congenital fiber type disproportion and other congenital myopathies associated with a Type I atrophy may be detected. The ultrastructural characteristics and the fine structure of autofluorescent lipopigments rich in phosphatases in the skeletal muscle fiber permit appropriate diagnosis of the individual types of congenital myopathy or neuronal ceroid lipofuscinosis.
D000135:Acid Phosphatase / Q000378:metabolism; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology* / Q000648:ultrastructure; D009133:Muscular Atrophy / Q000201:enzymology; D009136:Muscular Dystrophies / Q000201:enzymology; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000201:enzymology*; D013048:Specimen Handling
D000135:Acid Phosphatase; D000251:Adenosine Triphosphatases
Muskelbiopsie.