Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

René Feichtinger; Bettina E Mucha; Holger Hengel; Zakaria Orfi; Christine Makowski; Junio Dort; Guy D"Anjou; Thi Tuyet Mai Nguyen; Rebecca Buchert; Hendrik Juenger; Peter Freisinger; Sarah Baumeister; Benedikt Schoser; Uwe Ahting; Reinhard Keimer; Cam-Tu Emilie Nguyen; Paul Fabre; Julie Gauthier; Marguerite Miguet; Fátima Lopes; Afnan AlHakeem; Amal AlHashem; Brahim Tabarki; Krishna Kumar Kandaswamy; Peter Bauer; Peter Steinbacher; Holger Prokisch; Marc Sturm; Tim M Strom; Benjamin Ellezam; Johannes A. Mayr; Ludger Schöls; Jacques L Michaud; Philippe M Campeau; Tobias B Haack; Nicolas A Dumont

doi:10.1038/s41436-019-0532-z

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

René Feichtinger (First author)
, Bettina E Mucha
, Holger Hengel
, Zakaria Orfi
, Christine Makowski
, Junio Dort
, Guy D"Anjou
, Thi Tuyet Mai Nguyen
, Rebecca Buchert
, Hendrik Juenger
, Peter Freisinger
, Sarah Baumeister
, Benedikt Schoser
, Uwe Ahting
, Reinhard Keimer
, Cam-Tu Emilie Nguyen
, Paul Fabre
, Julie Gauthier
, Marguerite Miguet
, Fátima Lopes

Afnan AlHakeem, Amal AlHashem, Brahim Tabarki, Krishna Kumar Kandaswamy, Peter Bauer, Peter Steinbacher, Holger Prokisch, Marc Sturm, Tim M Strom, Benjamin Ellezam, Johannes A. Mayr (Co-author), Ludger Schöls, Jacques L Michaud, Philippe M Campeau, Tobias B Haack, Nicolas A Dumont

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

34 Citations (Web of Science)

Original language	English
Pages (from-to)	2521-2531
Journal	GENETICS IN MEDICINE
Volume	21
Issue number	11
DOIs	https://doi.org/10.1038/s41436-019-0532-z
Publication status	Published - 2019

Keywords

SATELLITE CELLS
PAIRED DOMAIN
MUTATIONS
ADULT
DISTINCT
MYOD
SPECIFICATION
KIF21A
FAMILY
ROLES

Access to Document

10.1038/s41436-019-0532-z

Cite this

Feichtinger, R., Mucha, B. E., Hengel, H., Orfi, Z., Makowski, C., Dort, J., D"Anjou, G., Nguyen, T. T. M., Buchert, R., Juenger, H., Freisinger, P., Baumeister, S., Schoser, B., Ahting, U., Keimer, R., Nguyen, C.-T. E., Fabre, P., Gauthier, J., Miguet, M., ... Dumont, N. A. (2019). Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. GENETICS IN MEDICINE , 21(11), 2521-2531. https://doi.org/10.1038/s41436-019-0532-z

Feichtinger, René ; Mucha, Bettina E ; Hengel, Holger et al. / Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. In: GENETICS IN MEDICINE 2019 ; Vol. 21, No. 11. pp. 2521-2531.

@article{8aca6e46fa9e43e8864868b7082183c1,

title = "Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.",

keywords = "SATELLITE CELLS, PAIRED DOMAIN, MUTATIONS, ADULT, DISTINCT, MYOD, SPECIFICATION, KIF21A, FAMILY, ROLES",

author = "Ren{\'e} Feichtinger and Mucha, \{Bettina E\} and Holger Hengel and Zakaria Orfi and Christine Makowski and Junio Dort and Guy D{"}Anjou and Nguyen, \{Thi Tuyet Mai\} and Rebecca Buchert and Hendrik Juenger and Peter Freisinger and Sarah Baumeister and Benedikt Schoser and Uwe Ahting and Reinhard Keimer and Nguyen, \{Cam-Tu Emilie\} and Paul Fabre and Julie Gauthier and Marguerite Miguet and F{\'a}tima Lopes and Afnan AlHakeem and Amal AlHashem and Brahim Tabarki and Kandaswamy, \{Krishna Kumar\} and Peter Bauer and Peter Steinbacher and Holger Prokisch and Marc Sturm and Strom, \{Tim M\} and Benjamin Ellezam and Mayr, \{Johannes A.\} and Ludger Sch{\"o}ls and Michaud, \{Jacques L\} and Campeau, \{Philippe M\} and Haack, \{Tobias B\} and Dumont, \{Nicolas A\}",

note = "Feichtinger, Mayr: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.",

year = "2019",

doi = "10.1038/s41436-019-0532-z",

language = "English",

volume = "21",

pages = "2521--2531",

journal = "GENETICS IN MEDICINE ",

issn = "1098-3600",

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Feichtinger, R, Mucha, BE, Hengel, H, Orfi, Z, Makowski, C, Dort, J, D"Anjou, G, Nguyen, TTM, Buchert, R, Juenger, H, Freisinger, P, Baumeister, S, Schoser, B, Ahting, U, Keimer, R, Nguyen, C-TE, Fabre, P, Gauthier, J, Miguet, M, Lopes, F, AlHakeem, A, AlHashem, A, Tabarki, B, Kandaswamy, KK, Bauer, P, Steinbacher, P, Prokisch, H, Sturm, M, Strom, TM, Ellezam, B, Mayr, JA, Schöls, L, Michaud, JL, Campeau, PM, Haack, TB & Dumont, NA 2019, 'Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.', GENETICS IN MEDICINE , vol. 21, no. 11, pp. 2521-2531. https://doi.org/10.1038/s41436-019-0532-z

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. / Feichtinger, René (First author); Mucha, Bettina E; Hengel, Holger et al.
In: GENETICS IN MEDICINE , Vol. 21, No. 11, 2019, p. 2521-2531.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

AU - Feichtinger, René

AU - Mucha, Bettina E

AU - Hengel, Holger

AU - Orfi, Zakaria

AU - Makowski, Christine

AU - Dort, Junio

AU - D"Anjou, Guy

AU - Nguyen, Thi Tuyet Mai

AU - Buchert, Rebecca

AU - Juenger, Hendrik

AU - Freisinger, Peter

AU - Baumeister, Sarah

AU - Schoser, Benedikt

AU - Ahting, Uwe

AU - Keimer, Reinhard

AU - Nguyen, Cam-Tu Emilie

AU - Fabre, Paul

AU - Gauthier, Julie

AU - Miguet, Marguerite

AU - Lopes, Fátima

AU - AlHakeem, Afnan

AU - AlHashem, Amal

AU - Tabarki, Brahim

AU - Kandaswamy, Krishna Kumar

AU - Bauer, Peter

AU - Steinbacher, Peter

AU - Prokisch, Holger

AU - Sturm, Marc

AU - Strom, Tim M

AU - Ellezam, Benjamin

AU - Mayr, Johannes A.

AU - Schöls, Ludger

AU - Michaud, Jacques L

AU - Campeau, Philippe M

AU - Haack, Tobias B

AU - Dumont, Nicolas A

N1 - Feichtinger, Mayr: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.

PY - 2019

Y1 - 2019

KW - SATELLITE CELLS

KW - PAIRED DOMAIN

KW - MUTATIONS

KW - ADULT

KW - DISTINCT

KW - MYOD

KW - SPECIFICATION

KW - KIF21A

KW - FAMILY

KW - ROLES

U2 - 10.1038/s41436-019-0532-z

DO - 10.1038/s41436-019-0532-z

M3 - Original Article

C2 - 31092906

SN - 1098-3600

VL - 21

SP - 2521

EP - 2531

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

IS - 11

ER -

Feichtinger R, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J et al. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. GENETICS IN MEDICINE . 2019;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z