Title: | Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI |
Journal : | Neuromuscular disorders : NMD, 29, 5 |
Authors: | Saredi S, Author ; Gibertini S ; Matalonga L ; Farina L ; Ardissone A ; Moroni I ; Mora M |
Material Type: | Article |
Publication Date: | 05/2019 |
Size: | p 376 |
Languages: | English |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2019.04.001 / Pubmed : 31040037 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31040037 |