Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation

Author:

Mori-Yoshimura Madoka1,Mitsuhashi Satomi23,Nakamura Harumasa4,Komaki Hirofumi5,Goto Kanako23,Yonemoto Naohiro67,Takeuchi Fumi8,Hayashi Yukiko K.29,Murata Miho1,Takahashi Yuji1,Nishino Ichizo23,Takeda Shin’ichi10,Kimura En8

Affiliation:

1. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

2. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

3. Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

4. Department of Promoting Clinical Trial and Translational Medicine, Translational Medical Center, National Center of Neurology and Psychiatry, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

5. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

6. Department of Neuropsychopharmacology, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

7. Department of Biostatistics, Kyoto University School of Public Health, Sakyo, Kyoto, Japan

8. Translational Medical Center, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

9. Department of Neurophysiology, Tokyo Medical University, Shinjuku, Tokyo, Japan

10. National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference19 articles.

1. Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome;Davies;J Med Genet,1988

2. Dystrophin and mutations: one gene, several proteins, multiple phenotypes;Muntoni;Lancet Neurol,2003

3. The muscular dystrophies;Emery;Lancet,2002

4. Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients;Passamano;Acta Myol,2012

5. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus;Monaco;Genomics,1988

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