Article
A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy.
Neuromuscular disorders : NMD - 1 Jul 2021
Takizawa Hotake, Mori-Yoshimura Madoka, Minami Narihiro, Murakami Nobuyuki, Yatabe Kana, Taira Kenichiro, Hashimoto Yasumasa, Aoki Yoshitsugu, Nishino Ichizo, Takahashi Yuji
Abstract excerpt
Duchenne and Becker muscular dystrophy (DMD/BMD) are commonly inherited muscle disorders. We report a 31-year-old male who had muscle symptoms with left-right differences and intellectual disability. He was diagnosed with BMD at age 15 primarily based on muscle biopsy findings. A few years later, DMD gene analysis revealed that he was a heterozygous carrier of a normal copy of the gene and a mutated copy with an...
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