Title: | Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations |
Journal : | Journal of child neurology, 23, 7 |
Authors: | Khan A ; Sarnat HB ; Spaetgens R |
Material Type: | Article |
Publication Date: | 07/2008 |
Size: | p. 829-831 |
Languages: | English |
Keywords : | case studies ; congenital fiber-type disproportion myopathy selenoprotein related ; gène PHOX2B ; histopathology ; hypoventilation ; muscle biopsies ; muscle fiber type and size disproportion ; myogenesis ; respiratory failure ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/18658083?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |