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Miyoshi myopathy

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

PROTEIN INTERACTIONS: 1

Bethlem myopathy

1 OMIM reference -
3 associated genes
7 signs/symptoms

Miyoshi myopathy

Bethlem myopathy

ANO5	(UniProt - OMIM)		COL6A1	(UniProt - OMIM)
DYSF	(UniProt - OMIM)		COL6A2	(UniProt - OMIM)
			COL6A3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYSF	(0.63)	COL6A3

Citations in the biomedical literature:

Miyoshi myopathy		Bethlem myopathy
	Synonym(s): (no synonyms)		Synonym(s): - Benign autosomal dominant myopathy

	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: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: C537480		External references: 1 OMIM reference - 1 MeSH reference: C535436

Bethlem myopathy
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal dominant inheritance - Camptodactyly of fingers - Myopathy - Restricted joint mobility / joint stiffness / ankylosis - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
Miyoshi myopathy
(no data available)