ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Neuromuscular Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.020 GeneticVariation group BEFREE The frequency of particular forms of LGMD2 was 32.6% for LGMD2A (71 probands), 4.1% for LGMD2I (9 probands), 2.8% for LGMD2D (6 probands), and 1.4% for LGMD2L (3 probands).Further, we present the first results of a new approach established in the Czech Republic for diagnosis of neuromuscular diseases: sequence capture and targeted resequencing. 25135358 2014
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.020 Biomarker group BEFREE Muscle MRI therefore does not appear to be as useful in the diagnostic work up of LGMD2L as for other neuromuscular diseases, such as Bethlem myopathy or myofibrillar myopathy. 22980763 2012