PFKM, phosphofructokinase, muscle, 5213

N. diseases: 58; N. variants: 14
Disease: Neuromuscular inhibition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		0.010 Biomarker disease BEFREE We detected disease-causing mutations in eight of 58 candidate genes, grouped into the following categories: (1) disorders of fatty acid metabolism (CPT2), (2) disorders of glycogen metabolism (PFKM and PGAM2), (3) disorders of abnormal skeletal muscle relaxation and contraction (CACNA1S, MYH3, RYR1 and SCN4A), and (4) disorders of purine metabolism (AHCY). 28779239 2017