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congenital muscular dystrophy
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
LARGE1
POMT2
FKRP
POMT1
FKTN
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
mannosylation
glycoprotein biosynthetic process
transferase activity, transferring glycosyl groups
transferase activity, transferring hexosyl groups
muscle organ development
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Curated Studies
Most Correlated Studies
Hind limb skeletal muscle expression from laminin alpha 2 chain deficient mice
Laminin-deficient muscular dystrophy, dy/dy diaphragm
OMIM - Muscular dystrophy
Mouse Phenotypes - Myopathy
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Teaching NeuroImages: Characteristic phenotype of Ullrich congenital muscular dystrophy.
Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report.
Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service …
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.
Hemodynamic instability during prone spine surgery in a patient with merosin-deficient congenital mu…
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Clinical Trials
Most Relevant Clinical Trials
HBCMD01- Expanded Access for the Treatment of Congenital Muscular Dystrophy.
Bullying in Youth With Muscular Dystrophy and Congenital Myopathies
Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Thr…
Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenit…
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
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