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Title:

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

Document type:
Zeitschriftenaufsatz
Author(s):
Braun, Frederik ; Hentschel, Andreas ; Sickmann, Albert ; Marteau, Theodore ; Hertel, Swantje ; Förster, Fabian ; Prokisch, Holger ; Wagner, Matias ; Wortmann, Saskia ; Della Marina, Adela ; Kölbel, Heike ; Roos, Andreas ; Schara-Schmidt, Ulrike
Keywords:
EHLMRS ; SPATA5 ; mitochondrial disorder ; muscle proteomics ; myopathology
Journal title:
International Journal of Molecular Sciences
Year:
2021
Journal volume:
22
Journal issue:
15
Fulltext / DOI:
doi:10.3390/ijms22157835
Publisher:
MDPI
E-ISSN:
1422-0067
Date of publication:
22.07.2021
CC license:
by, https://creativecommons.org/licenses/by/4.0
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