Title: | Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis |
Journal : | Journal of child neurology, 27, 1 |
Authors: | Lee IC ; Su PH ; Chen JY ; Hu JM ; Lu JJ ; Ng YY |
Material Type: | Article |
Publication Date: | 2012 |
Size: | p. 99-104 |
Languages: | English |
Keywords : | assisted ventilation ; biceps brachii muscles ; case studies ; cholestasis ; congenital myopathy ; exon ; genetic mutations ; genotype-phenotype correlation ; MTM1 gene ; muscle biopsies ; neonatal hypotonia ; premature infants ; radiography ; research prospects ; reviews ; ventilators ; X-linked myotubular myopathy |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21881007 |
Pubmed / DOI : | DOI : 10.1177/0883073811414419 |