| A Swedish family with the rare Phe33Leu transthyretin mutation. | |
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MedLine Citation:
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PMID: 16194875 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Familial amyloidotic polyneuropathy (FAP) designates TTR mutations where the phenotype is dominated by a peripheral sensory-motor polyneuropathy. The most common mutation is ATTR Val30Met. FAP in association with ATTR Phe33Leu has been described previously in two American families, one of Polish-Lithuanian descent and the other of Polish-American. In this study, we report the phenotype of the ATTR Phe33Leu in a Swedish family. The proband is a 48 year-old patient from northern Sweden, whose father died with symptoms suggestive of FAP. Characteristic clinical features included polyneuropathy, carpal tunnel syndrome and asymptomatic, but echocardiographic examination diagnosed cardiomyopathy. The family history supports an early intervention with orthotopic liver transplantation in patients with FAP associated with the TTR Phe33Leu, and the patient was submitted for liver transplantation. |
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Authors:
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Gösta Holmgren; Urban Hellman; Jenni Jonasson; Hans-Eric Lundgren; Per Westermark; Ole B Suhr |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis Volume: 12 ISSN: 1350-6129 ISO Abbreviation: Amyloid Publication Date: 2005 Sep |
Date Detail:
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Created Date: 2005-09-30 Completed Date: 2008-03-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9433802 Medline TA: Amyloid Country: United States |
Other Details:
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Languages: eng Pagination: 189-92 Citation Subset: IM |
Affiliation:
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Department of Medical and Clinical Genetics/Medical Bioscience, Umeå University Hospital, Sweden. gosta.holmgren@medbio.umu.se |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amyloid Neuropathies, Familial
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genetics Carpal Tunnel Syndrome / genetics Female Humans Leucine / genetics* Male Middle Aged Mutation* Pedigree Phenotype Phenylalanine / genetics* Prealbumin / genetics* Sweden |
| Chemical | |
Reg. No./Substance:
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0/Prealbumin; 61-90-5/Leucine; 63-91-2/Phenylalanine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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