LGMD2L with bone affection: overlapping phenotype of dominant and recessive ANO5-induced disease.
Nanna
N
Witting
Morten
M
Duno
Alfred Peter
AP
Born
John
J
Vissing
D000075368:Anoctamins; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics*; D003402:Creatine Kinase / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D010641:Phenotype; D055815:Young Adult
C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels; D003402:Creatine Kinase