Cap disease is a rare structural congenital myopathy (CM) associated with hypotonia, proximal and facial muscle weakness, and frequently scoliosis and respiratory involvement. Mutations in TPM2, TPM3 and ACTA1 have been associated with cap disease, as well as nemaline myopathy. Combined caps and nemaline rods have been reported in the same patient due to a mutation in TPM3. Here, we report the first case of a severe, fatal CM with distinct and separate caps and nemaline rods identified in skeletal muscle biopsies.

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