Key result
Clinically and genetically distinct distal myopathies share common pathologic features involving rimmed vacuoles.
Design
Review
Authors
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Clinicians may recognize rimmed vacuoles to narrow myopathy differentials; leaves open refined genetic classification in future studies.
Provides an overview of the clinical, genetic, and pathological features of various distal myopathies, highlighting the common presence of rimmed vacuoles.
Ikuya Nonaka (1999) conducted a review in Distal myopathies. Distal myopathies are a group of clinically and genetically distinct entities that often share common pathologic features of myopathic changes with rimmed vacuoles.
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