Key result
Adult-onset Bethlem myopathy atypically mimics a demyelinating disorder in a Puerto Rican patient.
Why the study?
The study was conducted to describe an atypical presentation of adult-onset Bethlem myopathy in a patient whose clinical and radiologic features initially suggested a demyelinating etiology.
Adult-onset Bethlem myopathy can present atypically with clinical and radiologic features mimicking a demyelinating disorder.
Answers are grounded in this paper and cite their sources.
Atypical Bethlem myopathy may mimic demyelinating disease; leaves open expanded phenotypic recognition and genetic evaluation in adults.
Our objective was to describe an atypical presentation of adult-onset Bethlem myopathy in a Puerto Rican woman whose clinical and radiologic features initially suggested possible demyelinating etiology.
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Rivera et al. (2026) studied this question. Adult-onset Bethlem myopathy presented atypically with clinical and radiologic features mimicking a demyelinating disorder in a Puerto Rican patient.
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