Although found in different muscle diseases in association with other features, fiber type disproportion (FTD) represents the unique histological abnormality of a specific form of congenital myopathy. However, poor data on this disease have been reported in the literature. We aimed at clinically and histologically characterize a large cohort of Italian patients with FTD. We collected clinical, histological, molecular and imaging data from patients followed in 9 Italian tertiary referral centers for neuromuscular diseases.

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