Article

The in-frame p.Lys254del-CAPN3 deletion is not sufficient to cause late-onset camptocormia in dominantly inherited calpainopathy

2023-07-23

Abstract excerpt

<h4>Introduction/Aims</h4> Limb-girdle muscular dystrophy R1 (LGMDR1) calpain 3-related is one of the most common forms of LGMD. It is typically recessively inherited and associated with progressive weakness of proximal limb-girdle muscles. Recently, several families with an autosomal dominant inheritance transmission pattern have been reported (LGMDD4). Camptocormia is a common clinical feature in these patients....

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Literature Corpus work: 7c8a7f35-27eb-5082-95cf-a51fa9c18d4e
DOI: 10.1101/2023.07.19.23292361

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