Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
0.010 GeneticVariation phenotype BEFREE Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1 mutations may present with limb girdle and facial weakness. 11552027 2001