Nemaline myopathy. Evidence of dipeptidyl peptidase I deficiency.
Fluorescent protease histochemical analysis of muscle biopsy specimens from two patients with nemaline myopathy revealed the apparent absence of one proteolytic enzyme, dipeptidyl peptidase. Although the function of peptidases in normal muscle is obscure, this abnormality suggests that proteases may participate in posttranslational modification of proteins that are to be assembled into Z lines or, alternatively, in the disassembly and degradation of Z-line material.
D000328:Adult; D002675:Child, Preschool; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000172:deficiency*; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008856:Microscopy, Fluorescence; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000378:metabolism* / Q000473:pathology
D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases