Published in
Elsevier, European Journal of Medical Genetics, 11(63), p. 104040, 2020
DOI: 10.1016/j.ejmg.2020.104040
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X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant
Journal article published in 2020 by
Minna Kraatari,
Hannu Tuominen,
Sari Tuupanen,
Tarja Haapaniemi,
Jukka Moilanen,
Elisa Rahikkala 
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