Today, anyone with a phone can toss pebbles of content into the sea of social media, making ripples far beyond their own circle. A short video or post can inspire empathy, challenge assumptions, or ...

这篇病例研究首次报道了由DNAJB4基因纯合缺失(c.(?1)(1014_?)del)导致的新型分子伴侣病（chaperonopathy），患者表现为成人期急性呼吸衰竭（FVC仅20%理论值）、远端上肢运动障碍及脊柱强直特征。通过肌肉活检（显示肌原纤维肌病特征）和基因检测（NGS panel与qPCR验证 ...

The sources on MONDO:0018773 indicate HSPB8 as the causative gene, same as https://omim.org/entry/621078 on MONDO:0976133. And OMIM 621078 and Orpha 476093 https ...

Peer ReviewDownload a summary of the editorial decision process including editorial decision letters, reviewer comments and author responses to feedback. FOXK2 was identified as a novel pathogenic ...

1 Man, 3 Hearts: NJ Survivor Whose Story Touched Thousands Dies At 41 Christophe Lafontant, a New Jersey man who inspired thousands through his fight against rare disease, died on Sunday, April 27. He ...

Peer ReviewDownload a summary of the editorial decision process including editorial decision letters, reviewer comments and author responses to feedback. X-linked myopathy with excessive autophagy ...

If your doctor has suggested that you may have a myopathy, you likely have a lot of questions. There are many types of myopathies with different causes and outlooks. Myopathies are a class of diseases ...

How does a mother write her firstborn son’s obituary? How do I convey all that he was to us, all that he always will be long after he becomes only a memory to everyone else? He was born with a very ...

Success in obtaining orphan drug (a drug used for treating rare disease) designation will accelerate the approval process of the new drug, including speeding up of the review process, waiver of the ...