DMD DELETIONS UNDERLINING ASYMPTOMATIC AND MILD DYSTROPHINOPATHIES: LITERATURE REVIEW HIGHLIGHTS PHENOTYPE-RELATED MUTATION CLUSTERS AND PROVIDES INSIGHTS ABOUT GENETIC MECHANISMS, ETIOPATHOGENESIS AND PROGNOSIS

A DIAGNOSIS OF NEURACONTOCYTOSIS IN A PATIENT WITH A LONG HISTORY OF ISOLATED BUT CONSIDERABLE HYPERCKEMIA

A NOVEL DE NOVO SYNE2 MUTATION CAUSING A CHILDHOOD FORM OF TYPE 5 EMERY-DREIFUSS MUSCULAR DYSTROPHY

Unraveling a long-standing case through genetic panels: a rare form of congenital slow-progressing neuromuscular condition.