A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F

Endre Pál, Judith Zima, Kinga Hadzsiev, Yoko Itō, Taila Hartley, Kym M. Boycott, Béla Melegh

European Journal of Medical Genetics · 2019 · 18 citations · 16 references

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