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Atypical phenotype in two patients with LAMA2 mutations

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dc.contributor.authorMarques, J
dc.contributor.authorDuarte, ST
dc.contributor.authorCosta, S
dc.contributor.authorJacinto, S
dc.contributor.authorOliveira, J
dc.contributor.authorOliveira, ME
dc.contributor.authorSantos, R
dc.contributor.authorBronze-da-Rocha, E
dc.contributor.authorSilvestre, AR
dc.contributor.authorEvangelista, T
dc.contributor.authorCalado, E
dc.date.accessioned2014-02-26T22:43:02Z
dc.date.available2014-02-26T22:43:02Z
dc.date.issued2014
dc.description.abstractCongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 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).por
dc.identifier.citationNeuromuscul Disord. 2014. pii: S0960-8966(14)00007-8por
dc.identifier.urihttp://hdl.handle.net/10400.26/5811
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherElsevierpor
dc.subjectLamininapor
dc.subjectFenótipopor
dc.subjectDistrofias Muscularespor
dc.titleAtypical phenotype in two patients with LAMA2 mutationspor
dc.typejournal article
dspace.entity.typePublication
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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