Associated Papers
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene.
Chen C et al.
Frontiers in Genetics, 2023
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
Chen CP
Taiwanese Journal of Obstetrics & Gynecology, 2012
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A et al.
American Journal of Human Genetics, 2008
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