Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

Abstract excerpt

Dysferlinopathies are rare disorders of muscle that present two main phenotypes: Miyoshi myopathy with primarily distal weakness and limb-girdle muscular dystrophy type 2B (LGMD2B) with primarily proximal weakness. They are caused by mutations in the gene encoding the skeletal muscle protein dysferlin, which is involved in muscle repair. The clinical presentation of the disease is rather uncharacteristic, and...

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