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Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
Wang P, Jin P, Zhu L, Chen M, Qian Y, Zeng W, Wang M, Xu Y, Xu Y, Dong M. Wang P, et al. J Gene Med. 2022 May;24(5):e3417. doi: 10.1002/jgm.3417. Epub 2022 Apr 6. J Gene Med. 2022. PMID: 35338537 Free PMC article.
BACKGROUND: Congenital hydrocephalus is one of the symptoms of Walker-Warburg syndrome that is attributed to the disruptions of the genes, among which the B3GALNT2 gene is rarely reported. ...METHODS: Walker-Warburg Syndrome was su …
BACKGROUND: Congenital hydrocephalus is one of the symptoms of Walker-Warburg syndrome that is attributed to the …
Broad spectrum of phenotype and genotype in Korean alpha-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.
Ko YJ, Cho A, Kim WJ, Kim SY, Lim BC, Kim H, Hwang H, Choi JE, Kim KJ, Chae JH. Ko YJ, et al. Neuromuscul Disord. 2023 May;33(5):425-431. doi: 10.1016/j.nmd.2023.03.009. Epub 2023 Mar 23. Neuromuscul Disord. 2023. PMID: 37087885
Genotype-phenotype correlations were explored by a retrospective medical record review. The muscle-eye-brain disease/Fukuyama congenital muscular dystrophy was the most common phenotype (28/42, 66.7%). ...A stratified genetic test according to ethnicity shoul …
Genotype-phenotype correlations were explored by a retrospective medical record review. The muscle-eye-brain disease/Fukuyama congenital …
Respiratory management of patients with Fukuyama congenital muscular dystrophy.
Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, Nagata S, Ishigaki K. Sato T, et al. Brain Dev. 2016 Mar;38(3):324-30. doi: 10.1016/j.braindev.2015.08.010. Epub 2015 Sep 9. Brain Dev. 2016. PMID: 26363734
BACKGROUND: Fukuyama congenital muscular dystrophy (FCMD), characterized by intellectual impairment associated with cortical migration defects, is an autosomal recessive disorder caused by mutation in the fukutin gene. It is the second most common type of …
BACKGROUND: Fukuyama congenital muscular dystrophy (FCMD), characterized by intellectual impairment associated with cor …
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound.
Brasseur-Daudruy M, Vivier PH, Ickowicz V, Eurin D, Verspyck E. Brasseur-Daudruy M, et al. Pediatr Radiol. 2012 Apr;42(4):488-90. doi: 10.1007/s00247-011-2242-9. Epub 2011 Oct 15. Pediatr Radiol. 2012. PMID: 22002842
Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. ...
Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital musc …
Prenatal diagnosis and management of fetal hydrocephaly and lissencephaly.
Holzgreve W, Feil R, Louwen F, Miny P. Holzgreve W, et al. Childs Nerv Syst. 1993 Nov;9(7):408-12. doi: 10.1007/BF00306194. Childs Nerv Syst. 1993. PMID: 8306357
Two cases of prenatal diagnosis of lissencephaly are presented in the context of a series of 118 cases of prenatally diagnosed hydrocephalus. Within this series there was one case of Walker-Warburg syndrome and another of Miller-Dieker syndrome. It is …
Two cases of prenatal diagnosis of lissencephaly are presented in the context of a series of 118 cases of prenatally diagnosed hydrocephalus …
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network. Astrea G, et al. Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. Orphanet J Rare Dis. 2018. PMID: 30257713 Free PMC article.
BACKGROUND: Dystroglycanopathy (alpha-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated alpha- …
BACKGROUND: Dystroglycanopathy (alpha-DG) is a relatively common, clinically and genetically heterogeneous category of congenital for …
Mechanistic aspects of the formation of alpha-dystroglycan and therapeutic research for the treatment of alpha-dystroglycanopathy: A review.
Taniguchi-Ikeda M, Morioka I, Iijima K, Toda T. Taniguchi-Ikeda M, et al. Mol Aspects Med. 2016 Oct;51:115-24. doi: 10.1016/j.mam.2016.07.003. Epub 2016 Jul 12. Mol Aspects Med. 2016. PMID: 27421908 Review.
alpha-Dystroglycanopathy, an autosomal recessive disease, is associated with the development of a variety of diseases, including muscular dystrophy. In humans, alpha-dystroglycanopathy includes various types of congenital muscular dystrophy such …
alpha-Dystroglycanopathy, an autosomal recessive disease, is associated with the development of a variety of diseases, including muscular …
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H. Geis T, et al. Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. Orphanet J Rare Dis. 2019. PMID: 31311558 Free PMC article.
POMT1-related disorders belong to the group of dystroglycanopathies characterized by a proximally pronounced muscular dystrophy with structural or functional involvement of the brain and/or the eyes. The phenotypic spectrum ranges from the severe Walker-Wa …
POMT1-related disorders belong to the group of dystroglycanopathies characterized by a proximally pronounced muscular dystrophy …
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
Yang H, Manya H, Kobayashi K, Jiao H, Fu X, Xiao J, Li X, Wang J, Jiang Y, Toda T, Endo T, Wu X, Xiong H. Yang H, et al. J Hum Genet. 2016 Aug;61(8):753-9. doi: 10.1038/jhg.2016.42. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193224
POMT1 mutations cause a wide spectrum of clinical conditions from Walker-Warburg syndrome (WWS), which involves muscle, eye and brain abnormalities, to mild forms of limb-girdle muscular dystrophy with mental retardation. ...We report five Chine …
POMT1 mutations cause a wide spectrum of clinical conditions from Walker-Warburg syndrome (WWS), which involves muscle, …
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
Wilson RD, De Bie I, Armour CM, Brown RN, Campagnolo C, Carroll JC, Okun N, Nelson T, Zwingerman R, Audibert F, Brock JA, Brown RN, Campagnolo C, Carroll JC, De Bie I, Johnson JA, Okun N, Pastruck M, Vallée-Pouliot K, Wilson RD, Zwingerman R, Armour C, Chitayat D, De Bie I, Fernandez S, Kim R, Lavoie J, Leonard N, Nelson T, Taylor S, Van Allen M, Van Karnebeek C. Wilson RD, et al. J Obstet Gynaecol Can. 2016 Aug;38(8):742-762.e3. doi: 10.1016/j.jogc.2016.06.008. J Obstet Gynaecol Can. 2016. PMID: 27638987
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal domin …
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconcept …
18 results