Title: | Case report of intrafamiliar variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation |
Journal : | Orphanet journal of rare diseases, 5, 1, 35 |
Authors: | Bohm J ; Yis U ; Ortac R ; Cakmakci H ; His Kurul S ; Dirik E ; Laporte J |
Material Type: | Article |
Publication Date: | 2010 |
Size: | p. 1-6 |
Languages: | English |
Keywords : | autosomal recessive centronuclear myopathy ; BIN1 gene ; case studies ; family ; genetic heterogeneity ; genetic mutations ; heart arrhythmia ; intellectual developmental disorder ; respiratory failure ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/21129173 |
Pubmed / DOI : | DOI : 10.1186/1750-1172-5-35 |