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Tibial muscular dystrophy

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Central core disease

1 OMIM reference -
1 associated gene
4 signs/symptoms

Tibial muscular dystrophy

Central core disease

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TTN	(0.63)	RYR1

Citations in the biomedical literature:

Tibial muscular dystrophy		Central core disease
	Synonym(s): - Distal myopathy, Udd type - Distal titinopathy - TMD - Udd myopathy		Synonym(s): (no synonyms)

	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 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant		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: 1 OMIM reference - 1 MeSH reference: C536815		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
Tibial muscular dystrophy
(no data available)