Congenital fibre type disproportion.
Four children with congenital fibre type disproportion were described. It was shown that their type 1 fibres were at least 12% smaller than the type 11 fibres. There was no increase in the  terminal innervation ratio (TIR), but a decreased number of terminal knobs was observed in the biopsy of one child. The distribution of fibre types in the biopsy of another child bears out the notion that the abnormalities as seen in the biopsy can be traced back to the spine.
D000293:Adolescent; D001706:Biopsy; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital / Q000473:pathology; D009132:Muscles / Q000294:innervation / Q000473:pathology*; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology