Associated Papers
Novel muscle MRI features in Desmin related myasthenic myopathy.
Baskar D et al.
Neuromuscular Disorders : Nmd, 2026
Review of 40 genes causing congenital myasthenic syndromes.
Ohno K et al.
Journal of Human Genetics, 2025
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K et al.
Neuromuscular Disorders : Nmd, 2024
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
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