centronuclear myopathy 1

Summary
Synonym
  • CNM1
Definition
An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.
Super Class
autosomal dominant centronuclear myopathy
External Links
Disease Ontology
DOID:0111223
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4534 MTM1 myotubularin 1
64419 MTMR14 myotubularin related protein 14
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8NCE2 Myotubularin-related protein 14
The Human Phenotype Ontology
Displaying entries 11 - 20 of 47 in total
HPO ID HPO Term
HP:0001561 Polyhydramnios
HP:0002021 Pyloric stenosis
HP:0002047 Malignant hyperthermia
HP:0002194 Delayed gross motor development
HP:0002355 Difficulty walking
HP:0002522 Areflexia of lower limbs
HP:0002747 Respiratory insufficiency due to muscle weakness
HP:0003458 EMG: myopathic abnormalities
HP:0003477 Peripheral axonal neuropathy
HP:0003687 Centrally nucleated skeletal muscle fibers
Displaying 1 entry
Gene ID Gene Symbol Description
64419 MTMR14 myotubularin related protein 14

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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