title: Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation.
abstract: BACKGROUND
  Congenital Myasthenic Syndromes (CMS) are heterogeneous genetic diseases.
  
  
  METHODS
  Two siblings presented with progressive limb girdle weakness without significant fluctuations or ocular muscle weakness. Repetitive nerve stimulation showed a decremental response and there was no response to pyridostigmine therapy.
  
  
  RESULTS
  A trial of salbutamol produced a remarkable, consistent improvement. Mutation in exon 5 of the DOK7 gene was found in both siblings.
  
  
  CONCLUSIONS
  Patients with congenital myasthenic syndrome with DOK 7 mutation benefit remarkably with salbutamol.
authors.affiliation: Department of Neurology, Grant Government Medical College and JJ Hospital, Mumbai, India and *Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, Georgia, 30322, USA. Correspondence to: Prof Satish Khadilkar, 110, New Wing, First Floor, Bombay Hospital, 12, New Marine Lines, Mumbai 400 020, India. khadilkarsatish@gmail.com.
authors.forename: S
authors.initials: S
authors.lastname: Khadilkar
authors.forename: A
authors.initials: A
authors.lastname: Bhutada
authors.forename: B
authors.initials: B
authors.lastname: Nallamilli
authors.forename: M
authors.initials: M
authors.lastname: Hegde
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D058666:Adrenergic beta-2 Receptor Agonists / Q000627:therapeutic use*; D000420:Albuterol / Q000627:therapeutic use*; D002648:Child; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy* / Q000503:physiopathology*; D035781:Siblings; D044465:White People / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D058666:Adrenergic beta-2 Receptor Agonists; C432912:DOK5 protein, human; D000420:Albuterol