Title: | Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain |
Journal : | Neuromuscular disorders : NMD, 20, 3 |
Authors: | Vernengo L ; Chourbagi O ; Panuncio A ; Lilienbaum A ; Batonnet Pichon S ; Bruston F ; Rodrigues-Lima F ; Mesa R ; Pizzarossa C ; Demay L ; Richard P ; Rodriguez MM |
Material Type: | Article |
Publication Date: | 2010 |
Size: | p. 178-187 |
Languages: | English |
Keywords : | cardiac features ; cardiomyopathy ; desmin ; desminopathy ; electron microscopy ; family ; family trees ; genetic mutations ; histochemistry ; immunofluorescence ; mitochondria ; molecular genetics ; MRI ; nucleotide sequences ; protein structure ; skeletal muscle ; Uruguay |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/20133133 |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2010.01.001 |