X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.

This report suggests association between spastic paraplegia and pathogenic MTM1 variants expanding the phenotypic spectrum potentially associated with XLMTM, but the possible association needs to be confirmed by additional cases. PMID: 32805447 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32805447?dopt=Abstract

Source: European Journal of Medical Genetics - August 13, 2020 Category: Genetics & Stem Cells Authors: Kraatari M, Tuominen H, Tuupanen S, Haapaniemi T, Moilanen J, Rahikkala E Tags: Eur J Med Genet Source Type: research