Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature
| Autor: | Marta Cheli, Raffaella Brugnoni, Sara Gibertini, Renato Mantegazza, Lorenzo Maggi |
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| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Journal of Neuromuscular Diseases. 10:449-458 |
| ISSN: | 2214-3602 2214-3599 |
| Popis: | Congenital myasthenic syndromes (CMS) are rare diseases caused by mutation in genes coding for proteins involved in neuromuscular junction structure and function. DPAGT1 gene mutations are a rare cause of CMS whose clinical evolution and pathophysiological mechanisms have not been clarified completely. We present the case of two twins displaying an infancy-onset predominant limb-girdle phenotype and carrying a novel DPAGT1 mutation associated with unusual histological and clinical findings. CMS can mimic paediatric and adult limb-girdle phenotype, hence neurophysiology plays a fundamental role in the differential diagnosis. |
| Databáze: | OpenAIRE |
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