Title: | Variable phenotypes associated with mutations in DOK7 |
Journal : | Muscle & Nerve, 37, 4 |
Authors: | Anderson JA ; Ng JJ ; Bowe C ; McDonald C ; Richman DP ; Wollmann RL ; Maselli RA |
Material Type: | Article |
Publication Date: | 2008 |
Size: | p. 448-456 |
Languages: | English |
Keywords : | congenital myasthenic syndrome ; DOK7 gene ; electrodiagnosis ; electron microscopy ; genetic mutations ; genotype-phenotype correlation ; muscle biopsies ; neuromuscular junctions ; phenotypic heterogeneity ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/18161030?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |