Atypical phenotype in two patients with LAMA2 mutations

• Type: Article in International Scientific Journal
• Date: 2014

Authors

Marques, J (Author) Other; Duarte, ST (Author) Other; Costa, S (Author) Other; Jacinto, S (Author) Other; Oliveira, J (Author) Other; Oliveira, ME (Author) Other; Santos, R (Author) Other; Bronze da Rocha, E (Author) FFUP; Silvestre, AR (Author) Other; Calado, E (Author) Other; Evangelista, T (Author) Other

Journal

Title: Neuromuscular Disorders

Vol. 24

Pages: 419-424

ISSN: 0960-8966

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 22 Citations

Scopus - 25 Citations

Other information

Authenticus ID: P-009-A0Z

DOI: 10.1016/j.nmd.2014.01.004

Abstract (EN): Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the alpha 2-chain of laminin. We report two patients with partial laminin-alpha 2 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).

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6