J Korean Neurol Assoc.
2016 Aug;34(3):224-227. 10.17340/jkna.2016.34.3.11.
Cap Myopathy With a Heterozygous TPM3 Missense Mutation
- Affiliations
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- 1Department of Neurology, Pusan National University School of Medicine, Busan, Korea. yepark407@gmail.com
- 2Biomedical Research Institute, Pusan National University Hospital, Busan, Korea.
- 3Department of Pathology, Pusan National University School of Medicine, Busan, Korea.
- KMID: 2345248
- DOI: http://doi.org/10.17340/jkna.2016.34.3.11
Abstract
- Cap myopathy is pathologically characterized by cap structures comprising well-demarcated areas under the sarcolemma and containing deranged myofibrils and scattered Z-disks. Clinically it presents with slowly progressive muscle weakness, myopathic face, and frequent respiratory insufficiency. Four genes have been reported to be associated with the disease: TPM2, TPM3, ACTA1, and NEB. Here we describe that a patient presenting with mild limb weakness with facial affection showed cap structures on muscle pathology and carried a heterozygous TPM3 mutation.
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