关键词: LMNA congenital muscular dystrophy dropped head

Mesh : Child Heterozygote Humans Lamin Type A / genetics Male Muscular Dystrophies / diagnosis genetics Muscular Dystrophy, Emery-Dreifuss / diagnosis genetics Mutation

来  源:   DOI:10.24953/turkjped.2020.01.019

Abstract:
Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C > A) heterozygote mutation by the gene sequencing in the Lamin A/C assocıated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy.
摘要:
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