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bn:05236084n
Noun Named Entity
Categories: Syndromes affecting the heart, Rare syndromes
EN
Multi/minicore myopathy  multiminicore myopathy  MmD  Multi-minicore Disease  Multiminicore disease
EN
Multi/minicore myopathy is a congenital myopathy usually caused by mutations in either the SEPN1 and RYR1 genes. Wikipedia
Definitions
Relations
Sources
EN
Multi/minicore myopathy is a congenital myopathy usually caused by mutations in either the SEPN1 and RYR1 genes. Wikipedia
IS A
disease
rare disease
congenital myopathy
GENETIC ASSOCIATION
SEPN1
ryanodine receptor 1
Wikipedia
EN
Multi/minicore myopathy
Wikidata
EN
multiminicore myopathy
Wikidata Alias
EN
MmD, Multi-minicore Disease, Multi/minicore myopathy, Multiminicore disease

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