Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

Gina Ravenscroft, E.M. Thompson, Emily Todd, K.S. Yau, Nina Kresoje, P. Sivadorai, K. Friend, K. Riley, N.D. Manton, P. Blumbergs, M. Fietz, Rachael Duff, M.R. Davis, Richard Allcock, Nigel Laing

Research output: Contribution to journalArticle

23 Citations (Scopus)
Original languageEnglish
Pages (from-to)165-169
JournalNeuromuscular Disorders
Volume23
DOIs
Publication statusPublished - 2013

Cite this

Ravenscroft, G., Thompson, E. M., Todd, E., Yau, K. S., Kresoje, N., Sivadorai, P., Friend, K., Riley, K., Manton, N. D., Blumbergs, P., Fietz, M., Duff, R., Davis, M. R., Allcock, R., & Laing, N. (2013). Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. Neuromuscular Disorders, 23, 165-169. https://doi.org/10.1016/j.nmd.2012.11.005