title: Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.
abstract: BACKGROUND
  We present a Jordanian man with the typical LGMD 2L phenotype of early, asymmetric quadriceps weakness and subsequent biceps brachii weakness.
  
  
  METHODS
  Case report.
  
  
  RESULTS
  Muscle biopsies document a progressive dystrophic pattern unrelated to known sarcolemmal defects associated with muscular dystrophy. Genetic testing revealed novel, heterozygote Anoctamin 5 gene mutations.
  
  
  CONCLUSIONS
  This case report expands the known mutations resulting in LGMD 2L and supports the assertion that Anoctamin 5 mutations are more prevalent than previously recognized.
authors.affiliation: Department of Neurology, University of Michigan Medical Center, 1500 E. Medical Center Drive, 1C327 UH, EMG Lab, Ann Arbor, Michigan 48109, USA. alitt@med.umich.edu
authors.forename: Ann A
authors.initials: AA
authors.lastname: Little
authors.forename: Paul E
authors.initials: PE
authors.lastname: McKeever
authors.forename: Kirsten L
authors.initials: KL
authors.lastname: Gruis
mesh_terms: D000328:Adult; D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics*; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology; D009154:Mutation
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels