Minicore Myopathy with External Ophthalmoplegia

associated with mutations in RYR1

Also Known As:

Minicore Disease; Minicore Myopathy; Multi-Minicore Disease; Multicore Disease; Multicore Myopathy; Multicore Myopathy With External Ophthalmoplegia; Multiminicore Disease; Multiminicore Disease With External Ophthalmoplegia; Multiminicore Myopathy

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Paralysis: 14443
    - Ophthalmoplegia: 893
      - Minicore Myopathy with External Ophthalmoplegia: 67
- Neuromuscular Diseases: 2048
  - Muscular Diseases: 10368
    - Congenital Structural Myopathies: 419
      - Minicore Myopathy with External Ophthalmoplegia: 67
- Cranial Nerve Diseases: 564
  - Ocular Motility Disorders: 523
    - Ophthalmoplegia: 893
      - Minicore Myopathy with External Ophthalmoplegia: 67
Eye Diseases: 3620
- Ocular Motility Disorders: 523
  - Ophthalmoplegia: 893
    - Minicore Myopathy with External Ophthalmoplegia: 67
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Paralysis: 14443
      - Ophthalmoplegia: 893
        Minicore Myopathy with External Ophthalmoplegia: 67
Amino Acids, Peptides, and Proteins: 1
- Proteins: 496323
  - Carrier Proteins: 13306
    - Membrane Transport Proteins: 606
      - Ion Channels: 6936
        Calcium Channels: 3531
        Ryanodine Receptor Calcium Release Channel: 2144
        Minicore Myopathy with External Ophthalmoplegia: 67
  - Membrane Proteins: 10262
    - Membrane Glycoproteins: 2277
      - Ion Channels: 6936
        Calcium Channels: 3531
        Ryanodine Receptor Calcium Release Channel: 2144
        Minicore Myopathy with External Ophthalmoplegia: 67
    - Membrane Transport Proteins: 606
      - Ion Channels: 6936
        Calcium Channels: 3531
        Ryanodine Receptor Calcium Release Channel: 2144
        Minicore Myopathy with External Ophthalmoplegia: 67
  - Contractile Proteins: 703
    - Muscle Proteins: 1603
      - Ryanodine Receptor Calcium Release Channel: 2144
        Minicore Myopathy with External Ophthalmoplegia: 67
Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Congenital Structural Myopathies: 419
    - Minicore Myopathy with External Ophthalmoplegia: 67

Carolin K Scriba Selected Research

Carolin K Scriba Research Topics

Disease

Drug/Important Bio-Agent (IBA)