Key result
A 29-year-old female with elevated creatine kinase and subtle right arm weakness was diagnosed as a subclinical symptomatic Duchenne muscular dystrophy carrier with a heterozygous deletion of exon 44.
Case Report (n=1)
No
This case report broadens the clinical spectrum of Duchenne muscular dystrophy carriers by describing a subclinical symptomatic female with subtle asymmetric weakness and elevated creatine kinase.
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Alerts clinicians to DMD carrier status in females with mild asymmetric weakness and CK elevation; extends phenotypic spectrum but remains hypothesis-generating.
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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Cho et al. (2021) conducted a case report in Duchenne Muscular Dystrophy Carrier (n=1). Heterozygous deletion of exon 44 in the DMD gene was evaluated on Clinical and genetic diagnosis. A 29-year-old female with elevated creatine kinase and subtle right arm weakness was diagnosed as a subclinical symptomatic Duchenne muscular dystrophy carrier with a heterozygous deletion of exon 44.
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