HAL (France)
open access
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 trop
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