병리 및 유전자 분석으로 진단된 무증상 뒤센느근디스트로피 보인자: 임상 표현형 범위 확대

초록

A 29-year-old female presented with an elevated level of serum creatine kinase without subjective weakness. Neurologic examination showed the subtle motor weakness of the right arm. Muscle biopsy showed dystrophic changes and a mosaic pattern of dystrophin expression. The diagnosis was confirmed by multiplex ligation-dependent probe amplification and whole-exome sequencing, revealing heterozygous deletion of exon 44 in the DMD gene. Here, we introduce a subclinical symptomatic Duchenne muscular dystrophy carrier, which broadens the clinical spectrum of phenotype.

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