-
- Ana Lario, Carlos de Miguel, Emilio Ojeda, Santiago Gil, María J Coll, and Pilar Alfonso.
- Servicio de Hematología y Hemoterapia, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España. Electronic address: ana.lario@gmail.com.
- Med Clin (Barc). 2016 Jun 3; 146 (11): 494-6.
Background And ObjetiveTo describe a new molecular variant of Niemann-Pick disease type C (NPC) in a 27 year-old patient with splenomegaly and abolition of osteotendinous reflexes.Material And MethodsNPC1 is the main gene with described mutation in NPC disease. Here we report a case with a new mutation, p.N916S, not described before in a patient diagnosed with NPC.Resultsp.N916S was described as a cause of NPC disease by predictive programmes Mutation Master, PolyPhen2 and SIFT.Conclusionsp.N916S is a new mutation detected as a cause of NPC disease in a patient without severe neurological symptoms.Copyright © 2016 Elsevier España, S.L.U. All rights reserved.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..