| Hypertrichosis in patients with SURF1 mutations. | |
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MedLine Citation:
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PMID: 16222681 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present three patients with SURF1 mutations. In addition to Leigh syndrome all patients had hypertrichosis, a clinical sign that is not usually associated with Leigh syndrome. The hypertrichosis was not congenital and it was mainly distributed on the extremities and forehead. In addition to our three patients, we have identified five patients in the literature with hypertrichosis and Leigh syndrome due to SURF1 mutations. Since most patients had onset of hypertrichosis before the diagnosis of Leigh syndrome was made, we suggest that clinicians consider Leigh syndrome in patients with, for example, psychomotor retardation or other unspecific symptoms in combination with hypertrichosis. |
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Authors:
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Elsebet Ostergaard; Irena Bradinova; Susanne Holst Ravn; Flemming Juul Hansen; Emil Simeonov; Ernst Christensen; Flemming Wibrand; Marianne Schwartz |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 138 ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2005 Nov |
Date Detail:
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Created Date: 2005-10-26 Completed Date: 2006-03-28 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 384-8 Citation Subset: IM |
Copyright Information:
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Copyright 2005 Wiley-Liss, Inc |
Affiliation:
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John F. Kennedy Institute, Glostrup, Denmark. els@kennedy.dk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Female Humans Hypertrichosis / genetics* Infant Infant, Newborn Leigh Disease / pathology Male Membrane Proteins Mitochondrial Proteins Mutation* Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Membrane Proteins; 0/Mitochondrial Proteins; 0/Proteins; 0/Surf-1 protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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