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A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family.

ABSTRACT: Myoclonus dystonia syndrome is a rare movement disorder featured by myoclonic jerks and dystonia. We identified here a point mutation in ε-sarcoglycan gene exon 6 associating with inherited myoclonus dystonia syndrome in a Chinese Han family. The mutation identified induces a stop codon and terminates the transcription of ε-sarcoglycan mRNA. This in turn results in a large truncation of ε-sarcoglycan protein. The further investigation is required to understand physiological and pathological functions of ε-sarcoglycan.

SUBMITTER: Yan H

PROVIDER: S-EPMC3631554 | biostudies-other | 2013

REPOSITORIES: biostudies-other

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A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family.

Yan Hailiang H Guan Xiaoting X Wang Luning L Tan Jiping J Wang Guihong G An Yuan Y Zhang Yan Y

International journal of clinical and experimental medicine 20130412 4

Myoclonus dystonia syndrome is a rare movement disorder featured by myoclonic jerks and dystonia. We identified here a point mutation in ε-sarcoglycan gene exon 6 associating with inherited myoclonus dystonia syndrome in a Chinese Han family. The mutation identified induces a stop codon and terminates the transcription of ε-sarcoglycan mRNA. This in turn results in a large truncation of ε-sarcoglycan protein. The further investigation is required to understand physiological and pathological func ...[more]

PMID: 23641306

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