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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:BMC Pediatr
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2019
विषय:
Case Report
ऑनलाइन पहुंच: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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