PPL, periplakin, 5493

N. diseases: 50; N. variants: 17
Disease: Glycogen Storage Disease Type V ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		0.020 GeneticVariation disease BEFREE Two patients showed a defect of PPL in muscle, and were homozygous for the most common mutation associated with McArdle's disease, R49X in the muscle PPL gene (PYGM). 10918252 2000
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		0.020 Biomarker disease BEFREE As the father was known to have myophosphorylase (PPL) deficiency (McArdle's disease), we performed molecular genetic analysis of the PPL gene in autopsy muscle of the proposita. 9131647 1997