TPM3 mutation in one of the original cases of cap disease.

摘要

Cap disease is a rare congenital skeletal muscledisorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins.1-2 Clinical features are early onset of hypotonia and nonprogressive or slowly progressive muscle weakness. Respiratory problems are common. Five dominant mutations have been reported in association with cap disease, all in the beta-tropomyosin (betaTm) gene (TPM2). We report a mutation in the alphaTm_(slow) (gammaTm) gene (TPM3) in a patient with cap disease, supporting the concept that cap disease is genetically heterogeneous and closely related to nemaline mydpathy