Congenital myopathies

What are the congenital myopathies?

Congenital myopathies are a group of inherited myopathies with early onset of weakness, manifesting as infant hypotonia or delayed motor milestones in children.

These disorders are commonly either nonprogressive or only slowly progressive.

Classification is based on muscle histological appearance (e.g., central clearing on NADH staining has been called central core disease ).

More than one genetic mutation may cause similar histological findings, and mutations in some genes may cause multiple histological changes, even in the same family.

The most common congenital myopathies are central core disease, nemaline myopathy, centronuclear myopathy, and congenital fiber type disproportion.


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