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Multi-minicore disease and atypical periodic paralysis

MedGen UID:
808156
•Concept ID:
CN221543
•
Disease or Syndrome

Recent clinical studies

Etiology

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H
Neuromuscul Disord 2010 Mar;20(3):166-73. Epub 2010 Jan 18 doi: 10.1016/j.nmd.2009.12.005. PMID: 20080402Free PMC Article

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