X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers |
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| Authors: | B. Kaladhar Reddy T. E. Anandavalli O. S. Reddi |
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| Affiliation: | (1) Institute of Genetics, Hospital for Genetic Diseases, Begumpet, 500016 Hyderabad, India;(2) Institute of Medical Sciences, Panjagutta, Hyderabad, India |
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| Abstract: | Summary We report a unique case of a 46-year-old female who had signs of Duchenne-like muscular dystrophy on clinical, electromyographic, and laboratory investigation. A brother, sister, maternal uncle, and her own son also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both the X chromosomes to be morphologically normal. We discuss different hypothetical mechanisms to account for the family pedigree. |
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