Article

A CCG expansion in<i>ABCD3</i>causes oculopharyngodistal myopathy in individuals of European ancestry

2023-10-10

Abstract excerpt

<h4>ABSTRACT</h4> Individuals affected by inherited neuromuscular diseases often present with a specific pattern of muscle weakness, which can guide clinicians in genetic investigations and variant interpretation. Nonetheless, more than 50% of cases do not receive a genetic diagnosis. Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with a particular combination of ptosis, dysphagia and dis...

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Literature Corpus work: 9a968f05-123d-5786-8578-bd6ed6dfd8e9
DOI: 10.1101/2023.10.09.23296582

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