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Multiminicore/minicore/multicore disease

MedGen UID:
808174
•Concept ID:
CN221587
•
Disease or Syndrome

Recent clinical studies

Diagnosis

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
Duarte ST, Oliveira J, Santos R, Pereira P, Barroso C, Conceição I, Evangelista T
Muscle Nerve 2011 Jul;44(1):102-8. doi: 10.1002/mus.22009. PMID: 21674524

Prognosis

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
Duarte ST, Oliveira J, Santos R, Pereira P, Barroso C, Conceição I, Evangelista T
Muscle Nerve 2011 Jul;44(1):102-8. doi: 10.1002/mus.22009. PMID: 21674524

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    • ClinVar
      Related medical variations

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