Key result
A novel hemizygous intronic c.163 + 3A > G variant in the VMA21 gene was identified in a Chinese patient with adult-onset XMEA who unusually developed hypertension and left ventricular hypertrophy.
Population
One adult-onset Chinese patient suffering from XMEA
Design
Case report
Authors
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Adult-onset XMEA with cardiac involvement may occur; extends phenotypic spectrum but leaves open need for screening or confirmation.
Case Report (n=1)
Identifies a novel VMA21 variant causing adult-onset XMEA with atypical cardiac involvement, expanding the disease's phenotypic spectrum.
Chen et al. (2024) conducted a case report in X-linked myopathy with excessive autophagy (XMEA) (n=1). Hemizygous intronic c.163 + 3A > G variant in the VMA21 gene was evaluated on Clinical characteristics, muscle biopsy, and genetic findings. A novel hemizygous intronic c.163 + 3A > G variant in the VMA21 gene was identified in a Chinese patient with adult-onset XMEA who unusually developed hypertension and left ventricular hypertrophy.
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