nstd184 (Gomez et al. 2020)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Clara Gómez
- Description:
- X-linked myotubular myopathy (XLMTM; OMIM 310400) is a centronuclear congenital muscular disorder of X-linked recessive inheritance. Although female carriers are typically asymptomatic, affected heterozygous females have been described. The diagnosis of XLMTM is confirmed by the detection of a pathogenic variant in the MTM1 gene located on Xq28, the vast majority being point mutations. Here, we describe the case of a sporadic female patient with suspicion of centronuclear myopathy and a large deletion at Xq28. See Variant Summary counts for nstd184 in dbVar Variant Summary.