Abstract：
:Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF), a 150-kb gene on chromosome 2p13 that contains 55 coding exons. Many patients with MM harbour mutations in the DYSF gene, and most of these mutations are inherited from the patients' parents. Recently, we encountered novel, de novo mutations in the DYSF gene in a patient with MM. DYSF gene analysis was performed by targeted next-generation sequencing, and we found that the patient had compound heterozygous mutations, including a de novo mutation (c.613C > T) in exon 6 and a novel missense mutation (c.968T > C) in exon 11. The novel missense mutation, predicted to be a disease-causing mutation or affecting protein function by MutationTaster and Polyphen2, confirmed the diagnosis. These findings provide important insights into the pathogenesis and inheritance of MM.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Hu YY,Lian YJ,Xu HL,Zheng YK,Li CF,Zhang JW,Yan SPdoi
10.1016/j.neulet.2017.10.048subject
Has Abstractpub_date
2018-01-18 00:00:00pages
107-109eissn
0304-3940issn
1872-7972pii
S0304-3940(17)30874-1journal_volume
664pub_type
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journal_title：Neuroscience letters
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journal_title：Neuroscience letters
pub_type： 杂志文章
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journal_title：Neuroscience letters
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journal_title：Neuroscience letters
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