Zeitschrift für genetische Syndrome und Gentherapie
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Abstrakt

Dysferlinopathies

Vernengo L, Carrasco L, Angelini C and Rodriguez MM

Primary dysferlinopathies are due to mutations in the 55-exon gene located on chromosome 2p13 which encodes the protein dysferlin. They are a group of autosomal recessive heterogeneous muscular disorders. Clinical presentations show heterogeneity, ranging from limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal myopathy with anterior tibial onset to isolated hyperCKemia and severe functional disability. Miyoshi myopathy symptoms begin in the posterior muscle compartment of the calf, spreading later to the upper muscles. In limb girdle muscular dystrophy 2B the proximal muscles of the lower limbs are involved. The distal myopathy with anterior tibial onset shows anterior muscle weakness at onset, progressing rapidly to the lower and upper proximal muscles. The onset of these disorders is generally in the teens or early adulthood. The values of CK are always very high. The diagnosis is made by the reduction or absence of dysferlin in muscles of the affected patients performed by immunohistochemistry and immunoblotting with dysferlin monoclonal antibodies. The molecular analysis confirms the diagnosis.