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

• मुख्य लेखकों: Kondakova Olga Borisovna (लेखक), Krasnenko Anna Yurievna (लेखक), Tsukanov Kirill Yurievich (लेखक), Klimchuk Olesya Igorevna (लेखक), Korostin Dmitriy Olegovich (लेखक), Davidova Anna Igorevna (लेखक), Batysheva Tatyana Timofeevna (लेखक), Zhurkova Natalia Vyacheslavovna (लेखक), Surkova Ekaterina Ivanovna (लेखक), Shatalov Peter Alekseevich (लेखक), Ilinsky Valery Vladimirovich (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-04-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract 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...