Table 3.
α-Actin deficiency | 28 (24%) |
Neuropathic | |
Degenerative neuropathy | 20 (17%) |
Inflammatory plexitis | 20 (17%) |
Lymphocytic ganglionitis | 13 (11%) |
Myopathic | |
Degenerative leiomyopathy | 16 (14%) |
Vacuolar myopathy | 7 (6%) |
Hollow visceral myopathy | 4 (3%) |
Inclusion body myopathy | 4 (3%) |
Inflammatory leiomyositis | 1 (1%) |
Interstitial cell abnormalities | |
Decreased number ICCs | 2 (15%)* |
ICCs, interstitial cells of Cajal.
*From n = 13: recent Swedish series only. Less marked alterations were also noted in other patients, including focal decreases in ICC number around ganglia and hyperplasia/hypertrophy.