Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing
نویسندگان
چکیده
We report the case of a 16-year-old male patient with a myopathy with proximal muscle weakness. He started tiptoeing up, at the age of 4. At 13-year-old, he began to have difficulty climbing stairs, incorporating from the ground and running, being referred to the neurologist. Physical examination showed muscle weakness of shoulder and pelvic girdle, positive Gower’s sign, lumbar lordosis, and joint contractions. CK was elevated (7341 UI/L). Electromyography showed myopathic pattern, muscle biopsy, a dystrophic pattern, and the immunohistochemical analysis showed a lower intensity of staining with anti-DYS-3 antibody (Dp427m-dystrophin protein) [Figure 1a].
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