Nemaline myopathies are a heterogenous group of congenital myopathies caused by de
novo, dominantly or recessively inherited mutations in at least twelve genes. The genes …

The nemaline myopathies constitute a large proportion of the congenital or structural
myopathies. Common to all patients is muscle weakness and the presence in the muscle …

Background Clinical interpretation of genetic variants in the context of the patient's
phenotype is becoming the largest component of cost and time expenditure for genome …

Core myopathies are clinically, pathologically, and genetically heterogeneous muscle
diseases. Their onset and clinical severity are variable. Core myopathies are diagnosed by …

The troponin complex is a key regulator of muscle contraction. Multiple variants in skeletal
troponin encoding genes result in congenital myopathies. TNNC2 has been implicated in a …

We describe the natural history of 'Amish'nemaline myopathy (ANM), an infantile-onset,
lethal disease linked to a pathogenic c. 505G> T nonsense mutation of TNNT1, which …

Objective Recessive null variants of the slow skeletal muscle troponin T1 (TNNT1) gene are
a rare cause of nemaline myopathy that is fatal in infancy due to respiratory insufficiency …

Mutations in the TNNT1 gene cause an infantile, lethal form of myopathy named “Amish”
Nemaline Myopathy. Adult patients are very rarely described. We report a 49-year-old …

Background Congenital nemaline myopathies are rare pathologies characterised by muscle
weakness and rod-shaped inclusions in the muscle fibres. Methods Using next-generation …

Biallelic pathogenic variants in the troponin T type 1 (TNNT1) gene cause a severe form of
congenital nemaline myopathy. Typical features include severe motor delay, proximal …