Pugliese, Alessia
Della Marina, Adela
de Paula Estephan, Eduardo
Zanoteli, Edmar
Roos, Andreas
Schara-Schmidt, Ulrike
Hentschel, Andreas
Azuma, Yoshiteru
Töpf, Ana
Thompson, Rachel
Polavarapu, Kiran
Lochmüller, Hanns
Article History
Received: 2 September 2023
Revised: 12 October 2023
Accepted: 13 October 2023
First Online: 4 November 2023
Declarations
:
: On behalf of all authors, the corresponding author states that there is no conflict of interest.
: All patients provided their informed consent for the original genetic analysis that is now retrospectively summarized in this paper, and informed consent was obtained for the publication of patient images. Patient 1 was diagnosed within a standard clinical diagnostics process for which research ethics approval was not required. The RD-Connect GPAP, which was used for analysis of patients 2, 3 and 4, has received ethics approval from the Parc de Salut MAR Clinical Research Ethics Committee on 27 October 2015 under ref. no. 2015/6456/I.