O.19PAX7 deficiency causes mild congenital myopathy with rigid spine and respiratory insufficiency

Authors :: Robert-Yves Carlier
Andreas Marg
Stefanie Grunwald
Eric Metzler
Simone Spuler
E. Malfatti
Susana Quijano-Roy
Helge Amthor
Dominique Mompoint
Janine Kieshauer
Helena Escobar
Source :: Neuromuscular Disorders. 29:S120
Publication Year :: 2019
Publisher :: Elsevier BV, 2019.

Subjects :: medicine.medical_specialty
business.industry
Rigid spine
medicine.disease
Congenital myopathy
Neurology
Internal medicine
Pediatrics, Perinatology and Child Health
medicine
Cardiology
Neurology (clinical)
Respiratory system
business
Genetics (clinical)

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