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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Bibliographic Details
Published in:BMC Pediatr
Main Authors: 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
Format: Artigo
Language:Inglês
Published: BioMed Central 2019
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Case Report
Online Access: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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