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Central core disease

1 OMIM reference -
1 associated gene
4 signs/symptoms

COMMON GENES: 1

Autosomal dominant centronuclear myopathy

2 OMIM references -
4 associated genes
No signs/symptoms info

Central core disease

Autosomal dominant centronuclear myopathy

RYR1	(UniProt - OMIM)		DNM2	(UniProt - OMIM)
			MTMR14	(UniProt - OMIM)
			MYF6	(UniProt - OMIM)
			RYR1	(UniProt - OMIM)


COMMON GENES	RYR1

Citations in the biomedical literature:

Central core disease		Autosomal dominant centronuclear myopathy
	Synonym(s): (no synonyms)		Synonym(s): - AD-CNM

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Central core disease
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal dominant inheritance - Hypotonia - Myopathy
Autosomal dominant centronuclear myopathy
(no data available)