We report a family with a new phenotype of autosomal recessive muscle dystrophy caused by a dysferlin mutation. The onset of the illness is distal, in the muscles of the anterior compartment group. The disease is rapidly progressive, leading to severe proximal weakness. Muscle biopsy showed moderate dystrophic changes with no vacuoles. Dysferlin immunostaining was negative. Gene analysis revealed a frameshift mutation in the exon 50 (delG5966) of the DYSF gene. This phenotype further demonstrates the clinical heterogeneity of the dysferlinopathies. Ann Neurol 2001;49:130–134

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Diagnosis of septic arthritis requires aspiration and analysis of joint fluid. However, nonseptic articular disorders are fairly common and represent a significant diagnostic and therapeutic challenge. Such disorders include gout, Milwaukee shoulder, rapidly destructive articular disease, amyloid arthropathy, hemophilic arthropathy, primary synovial osteochondromatosis, pigmented villonodular synovitis, neuropathic arthropathy, and foreign-body synovitis. The clinical signs of articular disease, which include pain, swelling, and limitation of motion, are often nonspecific and can overlap with those of osseous or extraarticular disorders. Many articular processes have characteristic radiologic appearances that allow definitive diagnosis. Radiography is an important part of the evaluation of patients with articular disease. However, magnetic resonance (MR) imaging is the method of choice for characterizing the various disorders and assessing the full extent of osseous, chondral, and soft-tissue involvement. MR imaging can exquisitely demonstrate joint effusions, synovial proliferation, articular cartilage abnormalities, subchondral bone, ligaments, muscles, and juxtaarticular soft tissues. Although a wide spectrum of noninfectious processes may involve the joints, careful analysis of the imaging findings and correlation of these findings with the patient's clinical history can suggest a more specific diagnosis in most cases. Awareness and understanding of the underlying histopathologic findings aids in interpretation of MR images.