To identify the causative gene in three patients presenting progressive congenital myopathy and cap structures in skeletal muscle. Cap myopathy is a rare congenital myopathy characterized by the presence of peripherally-placed, well delimited structures resembling a cap in muscle fibres. Caps are mainly composed by thin filaments and segments of Z-disc. Although causative mutations in TPM2, TPM3, and ACTA1 genes have been associated with cap myopathy, an important number of patients remain without a molecular diagnosis precluding familial counselling and better patient health care.

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