Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

BACKGROUND: Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is...

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Detalles Bibliográficos
Autores principales: Borisovna, Kondakova Olga, Yurievna, Krasnenko Anna, Yurievich, Tsukanov Kirill, Igorevna, Klimchuk Olesya, Olegovich, Korostin Dmitriy, Igorevna, Davidova Anna, Timofeevna, Batysheva Tatyana, Vyacheslavovna, Zhurkova Natalia, Ivanovna, Surkova Ekaterina, Alekseevich, Shatalov Peter, Vladimirovich, Ilinsky Valery
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454623/
https://www.ncbi.nlm.nih.gov/pubmed/30961548
http://dx.doi.org/10.1186/s12887-019-1470-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454623/
https://www.ncbi.nlm.nih.gov/pubmed/30961548
http://dx.doi.org/10.1186/s12887-019-1470-2

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