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Article

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2021

Locci Sara, Cardani Rosanna, Brunori Paola, Lucchiari Sabrina, Comi Giacomo P, Federico Antonio, De Stefano Nicola, Meola Giovanni, Mignarri Andrea

Abstract excerpt

INTRODUCTION: Myotonic disorders are a group of diseases affecting the muscle, in different ways. Myotonic dystrophy type 1 (DM1) is related to (CTG)n expansion in the 3-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene and is the most frequent and disabling form, causing muscular, visibility, respiratory, and cardiac impairment. Non-dystrophic myotonias (NDMs) affect the skeletal muscle...

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PMID: 34386887
DOI: 10.1007/s10072-021-05538-y

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