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Benign Samaritan congenital myopathy

1 associated gene
No signs/symptoms info

COMMON GENES: 1

Central core disease

1 OMIM reference -
1 associated gene
4 signs/symptoms

Benign Samaritan congenital myopathy

Central core disease

RYR1

(UniProt - OMIM)

RYR1

(UniProt - OMIM)


COMMON GENES	RYR1

Citations in the biomedical literature:

Benign Samaritan congenital myopathy		Central core disease

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

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

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