Clinical and genetic analysis of a family with transthyretin amyloid polyneuropathy caused by a TTR Lys55Asn mutation
The p.Lys55Asn mutation in the TTR gene leads to a severe, rapidly progressive ATTR-PN phenotype, characterized by prominent gastrointestinal dysfunction. This study enhances understanding of the clinical spectrum associated with this rare mutation, emphasizing the need for early diagnosis and targeted management strategies.
Authors
- Wenming Yang (ORCID: https://orcid.org/0000-0001-8268-9291)
- Yishan Qian (ORCID: https://orcid.org/0000-0001-8698-3316)
- Taohua Wei
- Nannan Qian
- Jun Li (ORCID: https://orcid.org/0000-0002-3257-9315)
- Hui Han (ORCID: https://orcid.org/0000-0001-5561-2387)
- Huaizhen Chen (ORCID: https://orcid.org/0000-0002-8333-8554)
Institutions
- Anhui Medical University (CN)
- Anhui University of Traditional Chinese Medicine (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1186/s13023-025-04148-7
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00