Details of Disease | DrugMAP

General Information of Disease (ID: DISVC9AW)

Disease Name	Congenital myopathy with internal nuclei and atypical cores
Synonyms	myopathy, centronuclear, 4; myopathy, centronuclear, type 4; centronuclear myopathy 4; CNM4; centronuclear myopathy type 4
Definition	Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
Disease Hierarchy	DISXBEJO: Centronuclear myopathy DISVC9AW: Congenital myopathy with internal nuclei and atypical cores
Disease Identifiers	MONDO ID MONDO_0013890 UMLS CUI C4707232 OMIM ID 614807 MedGen ID 1642424 Orphanet ID 319160 SNOMED CT ID 764945007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC78	OTWZVF89	Strong	Autosomal dominant	[1]
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References

1	Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul 19.