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.

Ingrid Bader; M Freilinger; Franz Landauer; S Waldmüller; W Mueller-Felber; Christian Rauscher; Wolfgang Sperl; R E Bittner; W M Schmidt; Johannes A. Mayr

doi:10.1186/s13023-022-02421-7

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.

Ingrid Bader^* (Erstautor/-in), M Freilinger, Franz Landauer (Co-Autor/-in), S Waldmüller, W Mueller-Felber, Christian Rauscher (Co-Autor/-in), Wolfgang Sperl (Co-Autor/-in), R E Bittner, W M Schmidt, Johannes A. Mayr (Letztautor/-in)

^*Korrespondierende/r Autor/-in für diese Arbeit

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

1 Quellenangabe (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	279
Fachzeitschrift	ORPHANET JOURNAL OF RARE DISEASES
Jahrgang	17
Ausgabenummer	1
DOIs	https://doi.org/10.1186/s13023-022-02421-7
Publikationsstatus	Veröffentlicht - 2022

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10.1186/s13023-022-02421-7

Dieses zitieren

Bader, I., Freilinger, M., Landauer, F., Waldmüller, S., Mueller-Felber, W., Rauscher, C., Sperl, W., Bittner, R. E., Schmidt, W. M., & Mayr, J. A. (2022). 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. ORPHANET JOURNAL OF RARE DISEASES, 17(1), 279. https://doi.org/10.1186/s13023-022-02421-7

@article{24aa3ac242ab4528a383efbfdba5651c,

title = "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 = "Ingrid Bader and M Freilinger and Franz Landauer and S Waldm{\"u}ller and W Mueller-Felber and Christian Rauscher and Wolfgang Sperl and Bittner, {R E} and Schmidt, {W M} and Mayr, {Johannes A.}",

note = "Bader: Clinical Genetics Unit, University Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria. [email protected].; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria. [email protected].; Institute of Medical Genetics and Applied Genomics, University of T{\"u}bingen, Calwerstr. 7, 72076, T{\"u}bingen, Germany. [email protected].; Landauer: University Clinic of Orthopaedic and Trauma Surgery, SALK and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.; Rauscher: University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.; Mayr: University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.; Sperl: University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.",

year = "2022",

doi = "10.1186/s13023-022-02421-7",

language = "English",

volume = "17",

pages = "279",

journal = "ORPHANET JOURNAL OF RARE DISEASES",

issn = "1750-1172",

publisher = "Springer Nature",

number = "1",

}

Bader, I, Freilinger, M, Landauer, F, Waldmüller, S, Mueller-Felber, W, Rauscher, C , Sperl, W, Bittner, RE, Schmidt, WM & Mayr, JA 2022, '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.', ORPHANET JOURNAL OF RARE DISEASES, Jg. 17, Nr. 1, S. 279. https://doi.org/10.1186/s13023-022-02421-7

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. / Bader, Ingrid (Erstautor/-in); Freilinger, M; Landauer, Franz (Co-Autor/-in) et al.
in: ORPHANET JOURNAL OF RARE DISEASES, Jahrgang 17, Nr. 1, 2022, S. 279.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

TY - JOUR

T1 - 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.

AU - Bader, Ingrid

AU - Freilinger, M

AU - Landauer, Franz

AU - Waldmüller, S

AU - Mueller-Felber, W

AU - Rauscher, Christian

AU - Sperl, Wolfgang

AU - Bittner, R E

AU - Schmidt, W M

AU - Mayr, Johannes A.

N1 - Bader: Clinical Genetics Unit, University Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria. [email protected].; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria. [email protected].; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstr. 7, 72076, Tübingen, Germany. [email protected].; Landauer: University Clinic of Orthopaedic and Trauma Surgery, SALK and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.; Rauscher: University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.; Mayr: University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.; Sperl: University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.

PY - 2022

Y1 - 2022

U2 - 10.1186/s13023-022-02421-7

DO - 10.1186/s13023-022-02421-7

M3 - Original Article

C2 - 35854315

SN - 1750-1172

VL - 17

SP - 279

JO - ORPHANET JOURNAL OF RARE DISEASES

JF - ORPHANET JOURNAL OF RARE DISEASES

IS - 1

ER -