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

• Main Authors: Kondakova Olga Borisovna (Author), Krasnenko Anna Yurievna (Author), Tsukanov Kirill Yurievich (Author), Klimchuk Olesya Igorevna (Author), Korostin Dmitriy Olegovich (Author), Davidova Anna Igorevna (Author), Batysheva Tatyana Timofeevna (Author), Zhurkova Natalia Vyacheslavovna (Author), Surkova Ekaterina Ivanovna (Author), Shatalov Peter Alekseevich (Author), Ilinsky Valery Vladimirovich (Author)
• Format: Book
• Published: BMC, 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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...