A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family

Genomic DNA was extracted from peripheral blood leukocytes, and a panel of 168 distinct genes related to myopathy were sequenced using exome capture sequencing technology. Figure 2 Hemotoxylin and eosin staining revealed increased in fiber size variability, without necrosis (A; scale bar 100 μm); NA...

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Bibliographic Details
Published in:Chinese medical journal 2019-04, Vol.132 (7), p.856-859
Main Authors: Liu, Xiang-Yi, Zhang, Ying-Shuang, Sun, A-Ping, Zhong, Yan-Feng, Zheng, Dan-Feng, Fan, Dong-Sheng
Format: Article
Language:English
Subjects:
Age
Biopsy
Cardiomyopathy
Correspondence
Deoxyribonucleic acid
DNA
Fingers & toes
Genes
Genomes
Genomics
Magnetic resonance imaging
Mutation
Polymorphism
Scoliosis
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Summary:Genomic DNA was extracted from peripheral blood leukocytes, and a panel of 168 distinct genes related to myopathy were sequenced using exome capture sequencing technology. Figure 2 Hemotoxylin and eosin staining revealed increased in fiber size variability, without necrosis (A; scale bar 100 μm); NADH-tetrazoliumreductase staining (B; scale bar 100 μm); ATPase 4.6 (C) and 10.6 (D) show pronounced predominance of type I fibers with severe muscle grouping (scale bar 500 μm). See PDF] Genomic DNA was extracted from peripheral blood leukocytes, and a panel of 168 distinct genes related to myopathy were sequenced using exome capture sequencing technology. The DNA sequencing for the index patient revealed a c.5027G>C (p.Arg1676Pro) heterozygous missense mutation of the MYH7 gene, which was located in exon 35, the variant was validated by polymerase chain reaction [Figure 1].
ISSN:0366-6999
2542-5641
DOI:10.1097/CM9.0000000000000148