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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Nov 3, 2024. (Total: 233167Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Miyoshi Myopathy[original query]
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
Neurology India 0 62 (6): 635-9.
Xi Jianying, Blandin Gaelle, Lu Jiahong, Luo Sushan, Zhu Wenhua, Béroud Christophe, Pécheux Christophe, Labelle Véronique, Lévy Nicolas, Urtizberea Jon Andoni, Zhao Chongbo, Krahn Mart
Null variants in DYSF result in earlier symptom onset.
Clinical genetics 2020 11 99 (3): 396-406.
Park Hyung Jun, Hong Young Bin, Hong Ji-Man, Yun UnKyu, Kim Seung Woo, Shin Ha Young, Kim Seung Min, Choi Young-Ch
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