The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

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 …

Muscular dystrophies and congenital myopathies arise from specific genetic mutations
causing skeletal muscle weakness that reduces quality of life. Muscle health relies on …

The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the
sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining …

Japan has been facing challenges relating to specifically defined rare diseases, called Nan-
Byo in Japanese (literally 'difficult'+'illness'), and has already taken measures for them since …

Congenital myopathies are a clinically and genetically heterogeneous group of conditions
that most commonly present at or around the time of birth with hypotonia, muscle weakness …

Background Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle
disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic …

Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction,
ventricular stiffness and dilated atria. In consequence, it induces heart failure often with …

Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can
be caused by mutations in a wide range of proteins located in different cellular …