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ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026

A novel case of compound heterozygous GFPT1 congenital myasthenic syndrome with a coexisting heterozygous DYSF mutation: clinical and pathological insights.

Kamran Moradi et al.PubMed ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 41546777