[New mutation in a young woman diagnosed with Niemann-Pick disease type C]. / Nueva mutación descrita en una mujer joven con esplenomegalia, diagnosticada de enfermedad de Niemann-Pick tipo C.
Med Clin (Barc)
; 146(11): 494-6, 2016 Jun 03.
Article
en Es
| MEDLINE
| ID: mdl-27016452
BACKGROUND AND OBJETIVE: To 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 METHODS: NPC1 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. RESULTS: p.N916S was described as a cause of NPC disease by predictive programmes Mutation Master, PolyPhen2 and SIFT. CONCLUSIONS: p.N916S is a new mutation detected as a cause of NPC disease in a patient without severe neurological symptoms.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Glicoproteínas de Membrana
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Proteínas Portadoras
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Enfermedad de Niemann-Pick Tipo C
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Mutación
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Adult
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Female
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Humans
Idioma:
Es
Revista:
Med Clin (Barc)
Año:
2016
Tipo del documento:
Article
Pais de publicación:
España