Population
106 patients with 'Amish' nemaline myopathy linked to a pathogenic c.505G>T nonsense mutation of TNNT1, born…
Design
Cohort
Follow-up
up to 66 months
Authors
Loading...
Provides prognostic guidance for TNNT1-related nemaline myopathy families; leaves open targeted molecular therapies.
Amish nemaline myopathy is a lethal infantile-onset disease caused by a TNNT1 mutation, characterized by progressive muscle weakness and universal mortality from respiratory failure by age 6, highlighting the need for molecular therapies.
Fox et al. (2018) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: