early-onset myopathy with fatal cardiomyopathy

early-onset myopathy with fatal cardiomyopathy

An autosomal recessive titinopathy (OMIM:611705) characterised by congenital myopathy of skeletal and cardiac muscle leading to dilated cardiomyopathy,  hypotonia, muscle weakness, delayed motor development and early death.
 
Molecular pathology
Defects of TTN, which encodes a critical protein in striated muscle, cause early-onset myopathy with fatal cardiomyopathy.