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Title:

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

Document type:
Journal Article
Author(s):
Feichtinger, René G; Mucha, Bettina E; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Nguyen, Thi Tuyet Mai; Buchert, Rebecca; Juenger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fátima; AlHakeem, Afnan; Alhashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom...     »
Abstract:
PURPOSE: Skeletal muscle growth and regeneration rely on muscle stem cells, called satellite cells. Specific transcription factors, particularly PAX7, are key regulators of the function of these cells. Knockout of this factor in mice leads to poor postnatal survival; however, the consequences of a lack of PAX7 in humans have not been established. METHODS: Here, we study five individuals with myopathy of variable severity from four unrelated consanguineous couples. Exome sequencing identified pa...     »
Journal title abbreviation:
Genet Med
Year:
2019
Journal volume:
21
Journal issue:
11
Pages contribution:
2521-2531
Fulltext / DOI:
doi:10.1038/s41436-019-0532-z
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/31092906
Print-ISSN:
1098-3600
TUM Institution:
Institut für Humangenetik; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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