Metabolomics Analysis of Skeletal Muscles from FKRP-Deficient Mice Indicates Improvement After Gene Replacement Therapy
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Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-46431-1.pdf
Reference55 articles.
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2. Brancaccio, A. A molecular overview of the primary dystroglycanopathies. J. Cell. Mol. Med. 23, 3058–3062 (2019).
3. Brockington, M. et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am. J. Hum. Genet. 69, 1198–1209 (2001).
4. Brockington, M. et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum. Mol. Genet. 10, 2851–2859 (2001).
5. Mercuri, E. et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann. Neurol. 53, 537–542 (2003).
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