MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.010 Biomarker phenotype BEFREE In contrast to the 2 previously reported families, MATR3-related distal myopathy might be associated with relevant axial, proximal, and respiratory muscle weakness but without vocal cord palsy. 25154462 2014