Neuromuscular disorders : NMD · 2013
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Quinlivan Ros, Mitsuahashi Satomi, Sewry Caroline, Cirak Sebahattin, Aoyama Chieko, Mooore David, Abbs Stephen, Robb Stephanie, Newton Tina, Moss Celia, Birchall Daniel, Sugimoto Hiroyuki, Bushby Kate, Guglieri Michela, Muntoni Francesco, Nishino Ichizo, Straub Volker
Аннотация
Three patients with CHKB deficient muscular dystrophy are described which broadens the previously described phenotype. Blood smear in one patient showed Jordans anomaly (vacuolated leukocytes). Gastrointestinal features occurred in two patients and there appeared to be acute deterioration with infection/general anaesthesia. Brain imaging showed no structural changes but brain magnetic resonance proton spectroscopy (MRS) demonstrated significant reduction in choline:N-acetyl aspartate and choline:creatine ratios in keeping with a general decrease in the amount of choline and phosphocholine-based substrate. Muscle pathology showed either myopathic or dystrophic features, uneven oxidative enzyme staining, COX deficient fibres and peripherally located large mitochondria. CHKB activity was reduced in all three patients and complex 1 activity was significantly reduced in one patient.