LAMA2 stop-codon mutation: Merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference11 articles.
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3. LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy;Prandini;Neurology,2004
4. LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect;Di Blasi;Arch Neurol,2005
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1. Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation;Journal of Neuromuscular Diseases;2023-07-04
2. Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior;Neuromuscular Disorders;2022-09
3. Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature;Seizure;2021-10
4. Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort;Orphanet Journal of Rare Diseases;2021-07-19
5. Hippocampus chronic deep brain stimulation induces reversible transcript changes in a macaque model of mesial temporal lobe epilepsy;Chinese Medical Journal;2021-07-14
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