Medical Genetics Center

Novel, easy to adapt method for the major ADTKD gene MUC1

Tobias Eisenberger, Manuel Holtgrewe, Eva Decker, Nadine Bachmann, Markus Gödel, Maida Mahmud, Simon Parmentier, Matias Simons, Stefan Pfeffer, Sibylle von

Clinical Variability and Genotype‐Driven Outcomes in CHRND ‐Related Congenital Myasthenic Syndrome

BACKGROUND: Congenital myasthenic syndromes (CMS) caused by pathogenic variants in CHRND, encoding the δ-subunit of the nicotinic acetylcholine receptor (AChR), are rare, and data on genotype-phenotype correlations and long-term outcomes are limited. METHODS: We performed a retro...