Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case.
Lamanna B, Vinciguerra M, Dellino M, Cascella G, Cazzato G, Macorano E, Malvasi A, Scacco S, Cicinelli E, Loizzi V, Vimercati A, Cormio G, Paduano F, Cascardi E, Tatullo M.
Lamanna B, et al.
Int J Mol Sci. 2022 Nov 19;23(22):14408. doi: 10.3390/ijms232214408.
Int J Mol Sci. 2022.
PMID: 36430887
Free PMC article.
At the age of three years, she had increasing difficulty walking, running, jumping and climbing stairs, proximal upper and lower extremity muscle weakness and a positive Gowers' sign. In addition, the serum creatine kinase (CK) value was over 30X the upper limit of …
At the age of three years, she had increasing difficulty walking, running, jumping and climbing stairs, proximal upper and lower extremity m …