Article
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
Journal of neuromuscular diseases - 1 Jan 2023
Camelo Clara Gontijo, Artilheiro Mariana Cunha, Martins Moreno Cristiane Araújo, Ferraciolli Suely Fazio, Serafim Silva André Macedo, Fernandes Tatiana Ribeiro, Lucato Leandro Tavares, Rocha Antônio José, Reed Umbertina Conti, Zanoteli Edmar
Abstract excerpt
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 involvement and can lead to alterations such as brain malformation, epilepsy and intellectual disability. OBJECTIVE: Describe the frequency of cortical malformations,...
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