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UnknownFunctional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy.
Not available
S-EPMC6687948 | biostudies-literature
TranscriptomicsmicroRNA profiling of muscular dystrophies
In this study, we aim to identify common miRNA signatures in the pathogenesis of different NMD groups (Duchenne Muscular Dystrophy, Megaconial Congenital Muscular Dystrophy (CMD), Ullrich CMD and alpha-dystroglycanopathy) (abbreviated as D, M, U, and A, respectively) each caused by mutations in diff...
ORGANISM(S): Homo sapiens 
2020-06-22 | E-MTAB-9030 | biostudies-arrayexpress
ProteomicsA homozygous PPP1R21 splice variant associated with severe developmental delay, absence of speech and muscle weakness leads to activated proteasome function
PPP1R21 acts as a co-factor for protein phosphatase 1 (PP1), an important serine/threonine phosphatase known to be essential for cell division, control of glycogen metabolism, protein synthesis and muscle contractility. Bi-allelic pathogenic variants in PPP1R21 were linked to a neurodevelopmental di...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD034993 | Pride
Congenital Chkb  choline/ethanolamine kinase  muscular dystrophy Megaconial type (mdcmc)  vapb 
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