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

Conclusion
We provide a comprehensive phenotypic characterisation of the pathogenic variant TRAPPC11 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.

Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Justel, M., Jou, C., Sariego-Jamardo, A., Julia-Palacios, N. A., Ortez, C., Poch, M. L., Hedrera-Fernandez, A., Gomez-Martin, H., Codina, A., Dominguez-Carral, J., Muxart, J., Hernandez-Lain, A., Vila-Bedmar, S., Zulaica, M., Cancho-Candela, R., Castro, M Tags: Open access Genotype-phenotype correlations Source Type: research