Severe respiratory involvement in a young-onset limb-girdle muscular dystrophy 2A from Guinea-Bissau associated with a novel pathogenic mutation


Limb-girdle muscular dystrophy 2A (calpainopathy) is an autosomal recessive disorder caused by mutations in the CAPN3 gene, which encodes for calpain-3. In comparison with dystrophinopathy or other muscular dystrophies such as sarcoglycanopathy, respiratory involvement is considered rare and tends to occur in very late stages of the disease. A 27-years-old African male born in Guinea-Bissau presented with severe progressive limb-girdle muscle atrophy and weakness for the previous 12 years. He became wheelchair-bounded in his middle twenties.


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