Associated Papers
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L et al.
American Journal of Medical Genetics. Part A, 2019
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Bayram Y et al.
The Journal of Clinical Investigation, 2016
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
Hoffmann K et al.
American Journal of Human Genetics, 2006
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