Publications by authors named "Murielle Dobrzynski"
J Med Genet
September 2021
Article Synopsis
- Congenital nemaline myopathies are rare muscle disorders marked by weakness and rod-like inclusions in muscle fibers, often leading to serious complications.
- The study utilized next-generation sequencing to identify pathogenic variants in the troponin T gene in three patients, all of whom exhibited similar severe symptoms like muscle hypotonia and progressive respiratory failure.
- Genetic analysis revealed various mutations resulting in the complete absence of the troponin T protein, supporting the idea that these recessive mutations lead to a consistent clinical phenotype among affected individuals.
