Mutations in GMPPB Presenting with Pseudometabolic Myopathy

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy. Pa...

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Udgivet i:JIMD Rep
Main Authors: Panicucci, Chiara, Fiorillo, Chiara, Moro, Francesca, Astrea, Guja, Brisca, Giacomo, Trucco, Federica, Pedemonte, Marina, Lanteri, Paola, Sciarretta, Lucia, Minetti, Carlo, Santorelli, Filippo M., Bruno, Claudio
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5874214/
https://ncbi.nlm.nih.gov/pubmed/28456886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_25
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