Cap Myopathy With a Heterozygous TPM3 Missense Mutation.
10.17340/jkna.2016.34.3.11
- Author:
Yoori JUNG
1
;
Young Eun PARK
;
Jin Hong SHIN
;
Chang Hoon LEE
;
Dae Seong KIM
Author Information
1. Department of Neurology, Pusan National University School of Medicine, Busan, Korea. yepark407@gmail.com
- Publication Type:Case Report
- Keywords:
Cap myopathy;
Tropomyosin;
TPM3
- MeSH:
Extremities;
Humans;
Muscle Weakness;
Muscular Diseases*;
Mutation, Missense*;
Myofibrils;
Pathology;
Respiratory Insufficiency;
Sarcolemma;
Tropomyosin
- From:Journal of the Korean Neurological Association
2016;34(3):224-227
- CountryRepublic of Korea
- Language:Korean
-
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.
