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KMID : 1035220170090020046
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Korean Journal of Neuromuscular Disorders
2017 Volume.9 No. 2 p.46 ~ p.48
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C.1702C>T Nonsense Mutation in SPAST Gene in Family with Hereditary Spastic Paraplegia
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Kim Min-Ju
Kang Sa-Yoon
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Abstract
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Hereditary spastic paraplegia is a heterogeneous group of genetic disorders in which the main feature is progressive spasticity and lower extremity weakness. A 37-year-old man presented with progressive gait disturbance and he had a family history consistent with autosomal dominant inheritance. Gene testing revealed a nonsense mutation (c.1702C>T [p.Arg562Term]) in SPAST gene. We report a first Korean family with Arg562Term mutation in SPAST gene.
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KEYWORD
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Mutation, Muscle Spasticity Muscle Weakness
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Listed journal information
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