Congenital Multicore Myopathy with External Ophthalmoplegia

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Multicore Myopathy with External Ophthalmoplegia is related to congenital myopathy 1b, autosomal recessive and myopathy, and has symptoms including edema, ophthalmoplegia and facial paresis. An important gene associated with Congenital Multicore Myopathy with External Ophthalmoplegia is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle and lung, and related phenotypes are facial palsy and muscle weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
24
30

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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