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X-linked Myotubular Myopathy Mimics Hereditary Spastic Paraplegia in Two Female Manifesting Carriers of Pathogenic MTM1 Variant

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

Authors: Kraatari M, Tuominen H, Tuupanen S, Haapaniemi T, Moilanen J, Rahikkala E.

Eur J Med Genet. 2020 Nov;63(11):104040. doi: 10.1016/j.ejmg.2020.104040. Epub 2020 Aug 14.

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Specialties: Genetics,