CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Contracture ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009917
Disease: Contracture
Contracture 		0.020 GeneticVariation disease BEFREE Our study broadens the phenotype of titinopathies with the report of a new clinical entity with prominent contractures and no cardiac abnormality and where the recessive mutations lead to truncation of the M-line titin and secondary calpain 3 deficiency. 26581302 2015
CUI: C0009917
Disease: Contracture
Contracture 		0.020 Biomarker disease BEFREE Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. 15694138 2005