title: Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
abstract: BACKGROUND
  Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy.
  
  
  METHODS
  Clinical findings of four unrelated patients are reviewed. Mutation detection was performed by direct sequencing of the ANO5 exons.
  
  
  RESULTS
  We identified four novel mutations in the ANO5 gene. In one patient, a novel homozygous mutation (c.1965G>C). In three patients, the recurrent heterozygous exon 5 c.191dupA mutation is combined with other variants to form a compound heterozygous state: in two cases, novel splice site mutations in intron 5 (c.295-1G>A) and in intron 14 (c.1407+5G>A), and in one case, a novel missense mutation in exon 4 (c.172C>T).
  
  
  CONCLUSIONS
  The cases reported here should help to better understand the important role of mutation screening in the ANO5 gene in patients with adult onset muscular dystrophy and very high CK levels.
authors.affiliation: Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University of Munich, Germany. joachim.schessl@med.uni-muenchen.de
authors.forename: Joachim
authors.initials: J
authors.lastname: Schessl
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schoser
mesh_terms: D000328:Adult; D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics*; D003402:Creatine Kinase / Q000378:metabolism*; D049310:Distal Myopathies / Q000150:complications / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000150:complications / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009133:Muscular Atrophy / Q000150:complications / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels; D003402:Creatine Kinase