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First National Meeting of the Italian Association of Myology ABSTRACTS THE CLINICAL SPECTRUM OF DYSFERLINOPATHIES LONG TERM TREATMENT WITH A LBUTEROL IN JUVENILE AND ADULT ACID MALTASE DEFI-CIENCY PATIENTS
Mutations in the dysferlin gene (2p13) have been recently identified as responsible for an autosomal recessive form of limb-girdle muscular dystrophy (LGMD), classified as LGMD2B. We describe three patients with dysferlinopathy showing different phenotypes. Two siblings, aged 24 and 21, had severe weakness and wasting in the muscles of the pelvic girdle and, to a lesser extent, of the shoulder girdle, and waddling gait. A 26-year-old woman had progressive difficulty walking by age 20.fatcat:qsd4iwadc5ct5cjib2vh63vy3a