A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ss-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

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A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ss-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Author: Bader, Ingrid; Freilinger, M.; Landauer, F.; Waldmueller, S.; Mueller-Felber, W.; Rauscher, C.; Sperl, W.; Bittner, R. E.; Schmidt, W. M.; Mayr, J. A.
Tübinger Autor(en):
Bader, Ingrid
Waldmüller, Stephan
Published in: Orphanet Journal of Rare Diseases (2022), Bd. 17 (1), Article 279
Verlagsangabe: Bmc
Language: English
Full text: http://dx.doi.org/10.1186/s13023-022-02421-7
ISSN: 1750-1172
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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