Muscle biopsy abnormalities differ between Charcot-Marie-Tooth type 1 and 2: reflect different pathophysiology?
Muscle biopsy specimens have shown neuropathic findings in Charcot-Marie-Tooth (CMT) disease Type 1 (demyelinating form) and myopathic findings in CMT 2 (axonal form). Neurophysiological studies showed an active denervation-reinnervation process in CMT 1, whereas the CMT2 patients had a low reinnervation capacity and, thus, compensated for the loss of motor units by increasing the contractile tissue.
Borg
Kristian
K
Department of Rehabilitation Medicine, Huddinge University Hospital, Stockholm, Sweden. kristian.borg@rehabmed.hs.sll.SE
Ericson-Gripenstedt
UllaBritt
U
D002607:Charcot-Marie-Tooth Disease / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009420:Nervous System / Q000473:pathology / Q000503:physiopathology