Cap Myopathy With a Heterozygous TPM3 Missense Mutation
Journal of the Korean Neurological Association
; : 224-227, 2016.
Article
in Ko
| WPRIM
| ID: wpr-65863
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Pathology
/
Respiratory Insufficiency
/
Sarcolemma
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Tropomyosin
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Muscle Weakness
/
Mutation, Missense
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Extremities
/
Muscular Diseases
/
Myofibrils
Limits:
Humans
Language:
Ko
Journal:
Journal of the Korean Neurological Association
Year:
2016
Type:
Article