rs28933979, TTR

N. diseases: 70
Disease: Muscle Weakness ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.010 GeneticVariation BEFREE Among patients with familial amyloid polyneuropathy (FAP), those with transthyretin Val30Met mainly show distally predominant weakness and atrophy, whereas some FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, show muscle weakness and atrophy that is dominant proximally, simulating myopathy. 15536615 2005