Document Detail

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype.
MedLine Citation:
PMID:  23692895     Owner:  NLM     Status:  Publisher    
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.
Ros Quinlivan; Satomi Mitsuahashi; Caroline Sewry; Sebahattin Cirak; Chieko Aoyama; David Mooore; Stephen Abbs; Stephanie Robb; Tina Newton; Celia Moss; Daniel Birchall; Hiroyuki Sugimoto; Kate Bushby; Michela Guglieri; Francesco Muntoni; Ichizo Nishino; Volker Straub
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-5-18
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  -     ISSN:  1873-2364     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2013 May 
Date Detail:
Created Date:  2013-5-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Crown Copyright © 2013. Published by Elsevier B.V. All rights reserved.
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK. Electronic address:
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