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Quoted phrase not found in phrase index: "Congenital muscular dystrophy with intellectual disability and severe epilepsy"
Page 1
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
J Neuromuscul Dis. 2023;10(4):483-492. doi: 10.3233/JND-221638.
J Neuromuscul Dis. 2023.
PMID: 37182895
Free PMC article.
BACKGROUND: LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from a severe, congenital type to a milder, late-onset form. ...METHODS: This is an observational study of 52 LAMA2-RD patients …
BACKGROUND: LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from a …
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 …
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Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Societe de Neurologie Infantile.
Echenne B, Arthuis M, Billard C, Campos-Castello J, Castel Y, Dulac O, Fontan D, Gauthier A, Kulakowski S, De Meuron G, et al.
Echenne B, et al.
J Neurol Sci. 1986 Aug;75(1):7-22. doi: 10.1016/0022-510x(86)90046-8.
J Neurol Sci. 1986.
PMID: 3091775
Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presented signs of cortical and subcortical atrophy on CT scan. Two of these patients corresponded to different types of cerebro-ocular dysplasia- …
Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presente …
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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. ...This cohort, together with previously published cases, allows preliminary geno …
The most mildly affected subject has normal strength at 25 years, whereas three severely affected children presented in infancy with …
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