Associated Papers
Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.
Wang H et al.
Molecular Genetics & Genomic Medicine, 2024
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.
Baskar D et al.
Neurology. Genetics, 2024
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.
Saito Y et al.
Neurology, 2020
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