congenital muscular dystrophy 1B

Summary
Synonym
  • CMD1B
  • MDC1B
  • congenital muscular dystrophy type 1B
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.
Super Class
autosomal recessive disease congenital muscular dystrophy
External Links
Disease Ontology
DOID:0110634
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 11 - 18 of 18 in total
Gene ID Gene Symbol Description Source
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
64419 MTMR14 myotubularin related protein 14
79147 FKRP fukutin related protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024