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Quoted phrase not found in phrase index: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3"
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Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.
Borisovna KO, Yurievna KA, Yurievich TK, Igorevna KO, Olegovich KD, Igorevna DA, Timofeevna BT, Vyacheslavovna ZN, Ivanovna SE, Alekseevich SP, Vladimirovich IV. Borisovna KO, et al. BMC Pediatr. 2019 Apr 8;19(1):98. doi: 10.1186/s12887-019-1470-2. BMC Pediatr. 2019. PMID: 30961548 Free PMC article.
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 muscul …
BACKGROUND: Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegener …
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB).
Arvio M, Määttänen L, Haanpää M, Lähdetie J. Arvio M, et al. Am J Med Genet A. 2019 Dec;179(12):2481-2485. doi: 10.1002/ajmg.a.61369. Epub 2019 Oct 3. Am J Med Genet A. 2019. PMID: 31580529 Free article.
Muscle-eye-brain disease (MEB) is a recessively inherited rare disease. Sixteen different gene mutations are known, with the most common mutations in the POMGNT1 gene. The disease is now called congenital muscular dystrophy-dystroglycanopathy …
Muscle-eye-brain disease (MEB) is a recessively inherited rare disease. Sixteen different gene mutations are known, with the m …