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Joana Marques1, Sofia T. Duarte2,3, Sónia Costa4, Sandra Jacinto2,3, Jorge Oliveira5, Márcia E. Oliveira5, Rosário Santos5,6, Elsa Bronze-da-Rocha6, Ana Rita Silvestre7, Eulália Calado3, Teresinha Evangelista2,7

1 - Serviço de Neurologia, Instituto Português de Oncologia de Lisboa, Francisco Gentil, Rua Professor Lima Basto, Lisboa
2 - Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa
3 - Serviço de Neurologia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central EPE, Lisboa
4 - Serviço de Neurologia, Hospital Vila Franca de Xira
5 - Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar do Porto, Porto
6 - Departamento de Ciências Biológicas, Laboratório de Bioquímica, Faculdade de Farmácia da Universidade do Porto, Porto
7 - Laboratório de Neuropatologia, Serviço de Neurologia, Hospital de Santa Maria, CHLN, Lisboa

Neuromuscular Disorders 2014 May;24(5):419-24

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients underwent clinical, histopathological, imaging and genetic studies. Both cases have two

heterozygous LAMA2 variants sharing a potentially pathogenic missense mutation c.2461A>C (p.Thr821Pro) located in exon 18. Brain MRI was instrumental for the diagnosis, since muscular examination and motor achievements were normal in the first patient and there was a severe cardiac involvement in the second. The clinical phenotype of the patients is markedly different which could in part be explained by the different combination of mutations types (two missense versus a missense and a truncating mutation).

Palavras Chave: Distrofia muscular congénita, LAMA2