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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Published Online: 2019-07-16

Published Print: 2019-12

Authors

Geis, Tobias https://orcid.org/0000-0002-6941-3247
Rödl, Tanja

Topaloğlu, Haluk

Balci-Hayta, Burcu

Hinreiner, Sophie

Müller-Felber, Wolfgang

Schoser, Benedikt

Mehraein, Yasmin

Hübner, Angela

Zirn, Birgit

Hoopmann, Markus

Reutter, Heiko

Mowat, David

Schuierer, Gerhard

Schara, Ulrike

Hehr, Ute

Kölbel, Heike
License Information

Text and Data Mining valid from 2019-07-16

Version of Record valid from 2019-07-16
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Article History

Received: 21 January 2019

Accepted: 4 June 2019

First Online: 16 July 2019

Ethics approval and consent to participate

: The study was approved by the local Ethics Committee of the University Regensburg (#13–101-0236). Written informed consent was obtained from all participants.

: Written consent for publication was obtained from all participants. Specifically, consent for publication of the images of the adult LGMD patient (Fig. ) was obtained by his legal guardian.

: The authors declare that they have no competing interests.

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