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Quoted phrase not found in phrase index: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11"
Page 1
Spinal correction in patients with Fukuyama congenital muscular dystrophy.
Saito W, Namba T, Inoue G, Imura T, Miyagi M, Nakazawa T, Shirasawa E, Uchida K, Takaso M. Saito W, et al. J Orthop Sci. 2017 Jul;22(4):658-664. doi: 10.1016/j.jos.2017.02.005. Epub 2017 Mar 18. J Orthop Sci. 2017. PMID: 28325699
RESULTS: The mean height, weight and body mass index of the patients were 144.1 11.8 cm, 26.5 8.7 kg and 12.5 2.6 kg/m(2). The average intensive care unit stay was 1.3 days. ...FCMD patients are mentally impaired and physically small, so post-operative observation a …
RESULTS: The mean height, weight and body mass index of the patients were 144.1 11.8 cm, 26.5 8.7 kg and 12.5 2.6 kg/m(2). The averag …
Uniparental disomy unveils a novel recessive mutation in POMT2.
Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD. Brun BN, et al. Neuromuscul Disord. 2018 Jul;28(7):592-596. doi: 10.1016/j.nmd.2018.04.003. Epub 2018 Apr 10. Neuromuscul Disord. 2018. PMID: 29759639 Free PMC article.
Mutations in POMT2 are most commonly associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also cause limb girdle muscular dystrophy (LGMD2N). ...She developed progressive contractures and underwent unilateral Achilles tenotomy. By age …
Mutations in POMT2 are most commonly associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also …
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.
Geis T, Marquard K, Rödl T, Reihle C, Schirmer S, von Kalle T, Bornemann A, Hehr U, Blankenburg M. Geis T, et al. Neurogenetics. 2013 Nov;14(3-4):205-13. doi: 10.1007/s10048-013-0374-9. Epub 2013 Sep 20. Neurogenetics. 2013. PMID: 24052401
Defects in dystroglycan post-translational modification result in congenital muscular dystrophy with or without additional eye and brain involvement, are referred to as secondary dystroglycanopathies and have been associated with mutations in 11 different genes encoding gl …
Defects in dystroglycan post-translational modification result in congenital muscular dystrophy with or without additional eye and brain inv …
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H. Schell-Apacik CC, et al. Am J Med Genet A. 2008 Oct 1;146A(19):2501-11. doi: 10.1002/ajmg.a.32476. Am J Med Genet A. 2008. PMID: 18792984 Free PMC article.
Our results showed that 41 patients with complete absence (agenesis of the corpus callosum-ACC) or partial absence (dysgenesis of the corpus callosum-DCC) were identified. Out of these 28 had ACC, 13 had DCC. In 11 of the 28 patients with ACC, the following diagnoses could …
Our results showed that 41 patients with complete absence (agenesis of the corpus callosum-ACC) or partial absence (dysgenesis of the corpus …
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Fecarotta S, Gragnaniello V, Della Casa R, Romano A, Raiano E, Torella A, Savarese M, Nigro V, Strisciuglio P, Andria G, Parenti G. Fecarotta S, et al. Neuromuscul Disord. 2018 Nov;28(11):956-960. doi: 10.1016/j.nmd.2018.07.001. Epub 2018 Jul 19. Neuromuscul Disord. 2018. PMID: 30126629
At the age of 9 years, he was treated with 0.75 mg/kg/day of prednisone for 3 months and showed improvements in muscle strength and function scores and creatine kinase reduction. When steroid therapy was discontinued he showed again clinical and biochemical deterioration. …
At the age of 9 years, he was treated with 0.75 mg/kg/day of prednisone for 3 months and showed improvements in muscle strength and function …
Diagnostic criteria for Walker-Warburg syndrome.
Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, et al. Dobyns WB, et al. Am J Med Genet. 1989 Feb;32(2):195-210. doi: 10.1002/ajmg.1320320213. Am J Med Genet. 1989. PMID: 2494887
Walker-Warburg syndrome (WWS) is an autosomal recessive disorder manifest by characteristic brain and eye malformations. ...We think that WWS is identical to "cerebro-oculo-muscular syndrome" and "muscle, eye, and brain disease."...
Walker-Warburg syndrome (WWS) is an autosomal recessive disorder manifest by characteristic brain and eye malformations …
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J. Hehr U, et al. Neurogenetics. 2007 Nov;8(4):279-88. doi: 10.1007/s10048-007-0096-y. Epub 2007 Sep 29. Neurogenetics. 2007. PMID: 17906881
Furthermore, severe hydrocephalus was reported in two families during a previous pregnancy, emphasizing the phenotypic overlap with Walker-Warburg syndrome. In addition to three previously reported mutations, we identified six novel POMGnT1 mutations (one mis …
Furthermore, severe hydrocephalus was reported in two families during a previous pregnancy, emphasizing the phenotypic overlap with Walke …
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J. Bahi-Buisson N, et al. Brain. 2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7. Brain. 2010. PMID: 20929962
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. ...The foetal case, which was terminated at 35 weeks of …
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral f …