Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Background Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres. Methods Using next-generation sequencing, we identified three patients with pathogenic variants in the Troponin T type 1 ( TNNT1 ) gene, coding for the troponin T (TNT) skeletal muscle isoform. Results The clinical phenotype was similar in all patients, associating hypotonia, orthopaedic deformities and...