congenital muscular dystrophy

Summary
Definition
A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
Super Class
muscular dystrophy physical disorder
External Links
Disease Ontology
DOID:0050557
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 49 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
142 PARP1 poly(ADP-ribose) polymerase 1
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
353 APRT adenine phosphoribosyltransferase
1119 CHKA choline kinase alpha
1120 CHKB choline kinase beta
1291 COL6A1 collagen type VI alpha 1 chain
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
Displaying 1 entry
Gene ID Gene Symbol Description Source
12833 Col6a1 collagen, type VI, alpha 1

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024