Expanding the phenotypic spectrum of TRAPPC11- related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Maria JustelCristina JouAndrea Sariego-JamardoNatalia Alexandra Juliá-PalaciosCarlos OrtezMaria Luisa PochAntonio Hedrera-FernandezHilario Gomez-MartinAnna CodinaJana Dominguez-CarralJordi MuxartAurelio Hernández-LaínSara Vila-BedmarMiren ZulaicaRamon Cancho-CandelaMargarita Del Carmen CastroAlberto de la Osa-LangreoAlfonso Peña-ValencejaElena Marcos-VadilloPablo Prieto-MatosSamuel Ignacio Pascual-PascualAdolfo López de MunainAna CamachoBerta Estevez-AriasUliana MusokhranovaMireia OlivellaAlfonso OyarzábalCecilia Jimenez-MallebreraCristina Domínguez-GonzálezAndrés NascimentoÀngels García-CazorlaDaniel Natera-de BenitoPublished in: Journal of medical genetics (2023)
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.