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Background: Desminopathies are a clinically heterogeneous group of myopathies, with common histological findings in muscle biopsy. Clinically, they usually present with distal and/or proximal muscle weakness often associated with cardiomyopathy. We present 8 patients from 3 unrelated families manifesting isolated respiratory insufficiency without skeletal muscle weakness or heart disease, as a result of a mutation in the DESgene.