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The type-1 fibers were 57% smaller than type-2 fibers were, consistent with the definition of congenital fiber-type disproportion, which requires type-1 fibers that average at least 25% smaller than type-2 fibers.
One interesting pathologic feature of this case, in addition to the dystrophic changes, was the finding of congenital fiber-type disproportion. Small type-1 fibers have previously been reported in cases of Emery-Dreifuss muscular dystrophy because of either EMD1 mutation or lamin A/C (LMNA) gene mutation.
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