Clinical phenotype heterogeneity in a family with Îµ-sarcoglycan gene mutation.

Kaczynska, Justyna; Jamrozik, Zygmunt; Szubiga, Michal; Rudzinska-Bar, Monika; Janik, Piotr

Kaczynska, Justyna; Jamrozik, Zygmunt; Szubiga, Michal; Rudzinska-Bar, Monika; Janik, Piotr.

Afiliación

Kaczynska J; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
Jamrozik Z; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
Szubiga M; Department of Medical Genetics, Institute of Pediatrics, Faculty of Medicine, Jagiellonian University Medical College, Wielicka 265, 30-663 Krakow, Poland.
Rudzinska-Bar M; Department of Neurology, Andrzej Frycz Modrzewski Krakow University, Faculty of Medicine and Health Sciences, G. Herlinga-Grudzinskiego 1, 30-705 Krakow, Poland.
Janik P; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland. piotr.janik@wum.edu.pl.

Neurol Neurochir Pol ; 54(1): 33-38, 2020.

Article en En | MEDLINE | ID: mdl-31956970

Asunto(s)

Mutación; Sarcoglicanos/genética; Trastornos Distónicos; Humanos; Mioclonía; Fenotipo

Palabras clave

DYT11; MDS; SGCE; myoclonus-dystonia syndrome

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sarcoglicanos / Mutación Límite: Humans Idioma: En Revista: Neurol Neurochir Pol Año: 2020 Tipo del documento: Article País de afiliación: Polonia

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