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Abstracts from the Association of British Neurologists Annual Meeting 2011
1106 The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome
  1. A Chaouch,
  2. J S Mueller,
  3. V Guergueltcheva,
  4. F Muntoni,
  5. K Bushby,
  6. V Straub,
  7. J Palace,
  8. D Beeson,
  9. A Abicht,
  10. H Lochmuller
  1. University of Newcastle, University Hospital Alexandrovska, Bulgaria
  2. UCL Institute of Child Health, UK
  3. Univeristy of Oxford, UK
  4. Ludwig Maximillians University, Germany


We report on the clinical features of a distinct group of DOK 7 negative limb girdle congenital myasthenic syndrome (LG-CMS), the cause of which has only recently been unravelled. Congenital myasthenic syndromes are a rare group of inherited neuromuscular disorders associated with distinct clinical and genetic abnormalities, in which neuromuscular transmission is impaired. An interesting and often difficult group to recognise is the LG-CMS. This typically manifests with shoulder and pelvic girdle muscle weakness with or without additional features including ocular and bulbar involvement. Until recently, DOK 7 gene mutations have been the only recognised genetic cause of this phenotype and were found in half of all LG-CMS patients. Mutations in a novel CMS gene (GFPT1) were recently implicated in an undiagnosed, DOK 7 negative, LG-CMS cohort of 24 patients. All patients had proximal limb weakness with no ocular or bulbar features and showed a positive response to pyridostigmine. Although age of onset of disease was usually in early childhood, a great number of patients presented to medical attention well into adulthood. Furthermore, tubular aggregates arising from the sarcoplasmic reticulum were seen in the majority of patients.

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