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Quoted phrase not found in phrase index: "Congenital muscular dystrophy with intellectual disability and severe epilepsy"
Page 1
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY. Quijano-Roy S, et al. J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24. J Neurol. 2022. PMID: 34559299
BACKGROUND: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). ...An intronic variant (c.909 + 7A > G) …
BACKGROUND: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies ca …
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.
Sixteen different gene mutations are known, with the most common mutations in the POMGNT1 gene. The disease is now called congenital muscular dystrophy-dystroglycanopathy type A3 (MDDGA3). It manifests itself as muscular dystrophy with eye and b …
Sixteen different gene mutations are known, with the most common mutations in the POMGNT1 gene. The disease is now called congenital …
Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter.
Echenne B, Rivier F, Jellali AJ, Azais M, Mornet D, Pons F. Echenne B, et al. Neuromuscul Disord. 1997 May;7(3):187-90. doi: 10.1016/s0960-8966(97)00452-5. Neuromuscul Disord. 1997. PMID: 9185183
Merosin staining was normal. This case differs from Fukuyama's congenital dystrophy, from merosin negative congenital muscular dystrophy, or from other congenital muscular dystrophy with CNS dysfunction. It underlines the he …
Merosin staining was normal. This case differs from Fukuyama's congenital dystrophy, from merosin negative congenital …
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD. Jensen BS, et al. Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23. Hum Mutat. 2015. PMID: 26310427 Free PMC article.
The most mildly affected subject has normal strength at 25 years, whereas three severely affected children presented in infancy with intellectual disability and epilepsy. ...We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle m …
The most mildly affected subject has normal strength at 25 years, whereas three severely affected children presented in infancy with …