Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature

Article type: Short Communication

Authors: Cheli, Marta | Brugnoni, Raffaella | Gibertini, Sara | Mantegazza, Renato | Maggi, Lorenzo^{; *}

Affiliations: Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy

Correspondence: [*] Correspondence to: Lorenzo Maggi, Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. E-mail: lorenzo.maggi@istituto-besta.it.

Abstract: 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.

Keywords: Congenital, myasthenia, DPAGT1, single-fiber EMG, salbutamol

DOI: 10.3233/JND-221675

Journal: Journal of Neuromuscular Diseases, vol. 10, no. 3, pp. 449-458, 2023