A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.

Tsamis, Konstantinos I; Xiromerisiou, Georgia; Nikas, Ilias P; Giannakis, Alexandros; Konitsiotis, Spiridon; Sarmas, Ioannis

Tsamis, Konstantinos I; Xiromerisiou, Georgia; Nikas, Ilias P; Giannakis, Alexandros; Konitsiotis, Spiridon; Sarmas, Ioannis.

Afiliación

Tsamis KI; Department of Neurology, University Hospital of Ioannina, Ioannina, Greece.
Xiromerisiou G; Department of Neurology, University Hospital of Larissa, Larissa, Greece.
Nikas IP; School of Medicine, European University Cyprus, Nicosia, Cyprus.
Giannakis A; Department of Neurology, University Hospital of Ioannina, Ioannina, Greece.
Konitsiotis S; Department of Neurology, University Hospital of Ioannina, Ioannina, Greece.
Sarmas I; Department of Neurology, University Hospital of Ioannina, Ioannina, Greece.

Lab Med ; 53(2): 210-214, 2022 Mar 07.

Article en En | MEDLINE | ID: mdl-34480178

Asunto(s)

Enfermedad de Charcot-Marie-Tooth; Polineuropatías; Enfermedad de Charcot-Marie-Tooth/diagnóstico; Enfermedad de Charcot-Marie-Tooth/genética; Humanos; Mutación; Neprilisina/genética; Fenotipo; Polineuropatías/diagnóstico; Polineuropatías/genética

Palabras clave

CD10; HMSN; MME; late-onset CMT; membrane metallo-endopeptidase; neprilysin

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polineuropatías / Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Diagnostic_studies / Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Lab Med Año: 2022 Tipo del documento: Article País de afiliación: Grecia Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google