PONM04 Myofibrillar myopathy caused by a mutation in the desmin gene: expanding the phenotype

Vocal cord palsy has been described in the autosomal dominant myopathy: vocal cord and pharyngeal weakness with distal myopathy (VCPDM). However, it has not been described in association with a desminopathy and therefore expands the phenotype of this myofibrillar myopathy subgroup.

from the Journal of Neurology, Neurosurgery & Psychiatry with Practical Neurology

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