Abstract:
:We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accumulation of enlarged lysosomes, partly filled with electro-dense material. We hypothesize that the accumulation of pathological fibroblasts may interfere with intramuscular force transmission resulting in exercise intolerance.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Verrips A,van Engelen BG,ter Laak H,Wesseling P,de Jong J,Gabreëls FJdoi
10.1055/s-2001-13873subject
Has Abstractpub_date
2001-04-01 00:00:00pages
93-6issue
2eissn
0174-304Xissn
1439-1899journal_volume
32pub_type
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