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KMID : 0359720160340030224
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Journal of the Korean Neurological Association
2016 Volume.34 No. 3 p.224 ~ p.227
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Cap Myopathy With a Heterozygous TPM3 Missense Mutation
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Jung Yoo-Ri
Park Yeong-Eun
Shin Jin-Hong
Lee Chang-Hun
Kim Dae-Seong
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Abstract
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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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KEYWORD
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Cap myopathy, Tropomyosin, TPM3
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