A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress
Journal of the Korean Neurological Association
; : 174-177, 2019.
Article
in Ko
| WPRIM
| ID: wpr-766770
Responsible library:
WPRO
ABSTRACT
Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Respiratory Insufficiency
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Tropomyosin
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Myopathies, Nemaline
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Muscle Weakness
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Ryanodine Receptor Calcium Release Channel
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Mutation, Missense
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Myopathies, Structural, Congenital
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Extremities
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Muscular Diseases
Limits:
Humans
Language:
Ko
Journal:
Journal of the Korean Neurological Association
Year:
2019
Type:
Article