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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Publicado en:BMC Pediatr
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: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6454623/
https://ncbi.nlm.nih.gov/pubmed/30961548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1470-2
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