Article
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.
Journal of neuromuscular diseases - 1 Jan 2018
Mori-Yoshimura Madoka, Mitsuhashi Satomi, Nakamura Harumasa, Komaki Hirofumi, Goto Kanako, Yonemoto Naohiro, Takeuchi Fumi, Hayashi Yukiko K, Murata Miho, Takahashi Yuji, Nishino Ichizo, Takeda Shin'ichi, Kimura En
Abstract excerpt
BACKGROUND: Obtaining an adequate number of patients to conduct a natural history study for rare diseases such as Becker muscular dystrophy (BMD) is difficult. OBJECTIVES: The present study used data from Remudy, a national registry for neuromuscular diseases in Japan, to conduct a phenotypic analysis of BMD. METHODS: We analyzed Remudy data of participants with dystrophinopathy. All participants who were aged 17...
Topics
- Adolescent
- Adrenal Cortex Hormones
- Adult
- Aged
- Asian People
- Dystrophin
- Exons
- Genetic Association Studies
- Genotype