MTMR2, myotubularin related protein 2, 8898

N. diseases: 50; N. variants: 15
Disease: Talipes cavus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.010 GeneticVariation disease BEFREE The four unrelated families harbor novel homozygous mutations in <i>MTMR2</i> (NM_016156, Family 1: c.1490dupC; p.Phe498IlefsTer2; Family 2: c.1479+1G>A; Family 3: c.1090C>T; p.Arg364Ter; Family 4: c.883C>T; p.Arg295Ter) and present with CMT4B1-related severe early-onset motor and sensory neuropathy, generalized muscle atrophy, facial and bulbar weakness, and pes cavus deformity. 31680794 2019