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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. However, the disease does not only affect the muscles, but has systemic i …
BACKGROUND: LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from a …
LAMA2-related congenital muscular dystrophy complicated by West syndrome.
Camacho A, Núñez N, Dekomien G, Hernández-Laín A, de Aragón AM, Simón R.
Camacho A, et al.
Eur J Paediatr Neurol. 2015 Mar;19(2):243-7. doi: 10.1016/j.ejpn.2014.11.005. Epub 2014 Dec 2.
Eur J Paediatr Neurol. 2015.
PMID: 25500573
BACKGROUND: Mutations in the LAMA2 gene cause autosomal recessive laminin alpha2 related congenital muscular dystrophy. In patients with partial laminin alpha2 deficiency the phenotype is usually milder than in those with absent protein. Apart from the typica …
BACKGROUND: Mutations in the LAMA2 gene cause autosomal recessive laminin alpha2 related congenital muscular dystrophy. …
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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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