Title: | Myasthenic syndrome caused by plectinopathy |
Journal : | Neurology, 76, 4 |
Authors: | Selcen D ; Juel VC ; Hobson-Webb LD ; Smith EC ; Stickler DE ; Bite AV ; Ohno K ; Engel AG |
Material Type: | Article |
Publication Date: | 25/01/2011 |
Size: | p. 327-336 |
Languages: | English |
Keywords : | case studies ; congenital myasthenic syndrome ; electron microscopy ; epidermolysis bullosa ; family trees ; genetic mutations ; histopathology ; intermediate filaments ; muscle histopathology ; neuromuscular junctions ; nucleotide sequences ; photographies ; PLEC gene ; plectin ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/21263134 |
Pubmed / DOI : | DOI : 10.1212/WNL.0b013e31820882bd |