Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report |
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Authors: | Hai-Yan Yan Ya-Nan Xie Jing-Zhe Han Xue-Qin Song |
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Institution: | 1.Department of Neurology, Harrison International Peace Hospital, Hebei, China;2.Department of Angiocardiopathy, The Second Hospital of Hebei Medical University, Hebei, China;3.Department of Neurology, The Second Hospital of Hebei Medical University, Hebei, China;4.Institute of Cardiocerebrovascular Disease, Hebei, China;5.Neurological Laboratory of Hebei Province, Hebei, China |
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Abstract: | Miyoshi myopathy (MM) is a rare autosomal recessive disorder caused by dysferlin (DYSF) gene mutation. Miyoshi myopathy-inducing mutation sites in the DYSF gene have been discovered worldwide. In the present study, a patient with progressive lower extremity weakness is reported, for which MM was diagnosed according to clinical manifestations, muscle biopsy, and immunohistochemistry. In addition, the DYSF gene of the patient and his parents was sequenced and analyzed and two heterozygous mutations of the DYSF gene (c.4756C> T and c.5316dupC) were discovered. The first mutation correlated with MM while the second was a new mutation. The patient was diagnosed with a compound heterozygous mutation. The mutation site is a new member of pathogenic MM gene mutations. |
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Keywords: | Dysferlin Gene Mutation Miyoshi Myopathy Muscle Recessive Inheritance |
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