Congenital fiber-type disproportion.

Abstract excerpt

Congenital fiber-type disproportion is a form of congenital myopathy that may be best viewed as a syndrome rather than as a formal diagnosis. The central histologic abnormality is that type 1 fibers are consistently smaller than type 2 fibers by at least 35%-40%. Care is needed in diagnosing patients, as this histologic abnormality can occur in other congenital myopathies and in other neuromuscular disorders....

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