Expanding the phenotypic spectrum of <i>TRAPPC11-</i>related muscular dystrophy: 25 Roma individuals carrying a founder variant

Abstract

We provide a comprehensive phenotypic characterisation of the pathogenic variant <i>TRAPPC11</i> c.1287+5G>A, which is founder in the Roma population. Our observations indicate that some typical features of golgipathies, such as microcephaly and clinical decompensation associated with infections, are prevalent in individuals with LGMD R18.