Associated Papers
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.
Chan TY et al.
Heliyon, 2024
38187266 (PubMed )
Supplement: mmc2.xlsx › Summary
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.
Echaniz-Laguna A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.
Horie R et al.
Muscle & Nerve, 2020
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
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