Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
0.010 GeneticVariation disease BEFREE This report extends the phenotypic spectrum of recessive MYPN-related myopathies showing: (1) the two patients had hanging big toe and the oldest one developed spine and hand contractures, none of these signs observed in the previously reported patients, (2) specific ultrastructural changes consisting in Z line fragmentation, but (3) no nemaline or caps on muscle pathology. 31133047 2019