Mental Retardation and Lifetime Events of Duchenne Muscular Dystrophy in Japan

Mochizuki, Hitoshi; Miyatake, Satoko; Suzuki, Mikiya; Shigeyama, Toshiki; Yatabe, Kana; Ogata, Katsuhisa; Tamura, Takuhisa; Kawai, Mitsuru

doi:10.2169/internalmedicine.47.0907

Cited by 14 publications

(14 citation statements)

References 21 publications

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“…19,20 Past research has indicated that those with a severe mental defect had later age of onset and confinement to wheelchair and a less marked decrease in creatine kinase levels with age. 21,22 No significant intelligence quotient difference were found between patients with promoter deletions and those without, nor was any relationship between length of deletion and full scale intelligence quotient observed. However, patients with distal deletions are more likely to be mentally challenged than those with proximal deletions.…”

Section: Discussionmentioning

confidence: 85%

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

et al. 2015

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Dystrophinopathy is a group of inherited diseases caused by mutations in the DMD gene. Within the dystrophinopathy spectrum, Duchenne and Becker muscular dystrophies are common X-linked recessive disorders that mainly feature striated muscle necrosis. We combined multiplex ligation-dependent probe amplification with Sanger sequencing to detect large deletions/duplications and point mutations in the DMD gene in 613 Chinese patients. A total of 571 (93.1%) patients were diagnosed, including 428 (69.8%) with large deletions/duplications and 143 (23.3%) with point mutations. Deletion/duplication breakpoints gathered mostly in introns 44-55. Reading frame rules could explain 88.6% of deletion mutations. We identified seventy novel point mutations that had not been previously reported. Spectrum expansion and genotype-phenotype analysis of DMD mutations on such a large sample size in Han Chinese population would provide new insights into the pathogenic mechanism underlying dystrophinopathies.

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Section: Discussionmentioning

confidence: 85%

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

et al. 2015

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“…The clinical hallmarks include onset in early childhood and progressive muscle weakness. In addition, recent studies have pointed to an increased risk for mental retardation (MR) and autism among affected males [Giliberto et al, 2004; Wu et al, 2005; Hendriksen and Vles, 2008; Mochizuki et al, 2008]. Here we report on a child, initially ascertained for ASD, who was later evaluated for muscle weakness and found to carry a submicroscopic deletion encompassing exons 12–25 of the dystrophin transcript (Dystrophin Dp427c isoform).…”

Section: To the Editormentioning

confidence: 80%