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Q42681353-ACE7B880-C4D8-4234-99C1-9D99243204FC
Q42681353-ACE7B880-C4D8-4234-99C1-9D99243204FC
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Statement
http://www.wikidata.org/entity/statement/Q42681353-ACE7B880-C4D8-4234-99C1-9D99243204FC
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
P2860
Q42681353-ACE7B880-C4D8-4234-99C1-9D99243204FC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42681353-ACE7B880-C4D8-4234-99C1-9D99243204FC
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wasDerivedFrom
82722d7b92234326a6b19caab914e908297cad2f
P2860
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.