Publications by authors named "Anne Cecile Coville"
With the exception of infantile spinal muscular atrophy (SMA) and congenital myotonic dystrophy 1 (DM1), congenital myopathies and muscular dystrophies with neonatal respiratory distress pose diagnostic challenges. Next-generation sequencing (NGS) provides hope for the diagnosis of these rare diseases. We evaluated the efficiency of next-generation sequencing (NGS) in ventilated newborns with peripheral hypotonia.
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- 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.