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Central Core Myopathy (Central Core Disease)

An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
Also Known As:
Central Core Disease; Myopathy, Central Core; Central Core Disease of Muscle; Central Core Diseases; Central Core Myopathies; Myopathies, Central Core; Shy Magee Syndrome; Syndrome, Shy-Magee; Shy-Magee Syndrome
Networked: 239 relevant articles (2 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Muscular Diseases (Myopathy)
2. Congenital Structural Myopathies (Centronuclear Myopathy)
3. Malignant Hyperthermia
4. Nemaline Myopathies (Nemaline Myopathy)
5. Minicore Myopathy with External Ophthalmoplegia

Experts

1. Dirksen, Robert T: 16 articles (06/2021 - 07/2002)
2. Muntoni, Francesco: 14 articles (03/2014 - 02/2003)
3. Jungbluth, Heinz: 14 articles (12/2011 - 06/2002)
4. Treves, Susan: 13 articles (01/2020 - 02/2003)
5. Zorzato, Francesco: 11 articles (01/2020 - 02/2003)
6. Meissner, Gerhard: 9 articles (01/2019 - 02/2003)
7. Xu, Le: 9 articles (01/2019 - 02/2003)
8. MacLennan, David H: 9 articles (01/2017 - 08/2003)
9. Monnier, Nicole: 7 articles (11/2015 - 06/2002)
10. Avila, Guillermo: 6 articles (01/2018 - 07/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Central Core Myopathy:
1. Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
2. Dynamin IIIBA
3. Proteins (Proteins, Gene)FDA Link
4. CalciumIBA
5. EnzymesIBA
6. AntibodiesIBA
7. nebulinIBA
8. Anesthetics (Anesthetic Agents)IBA
9. Protein Isoforms (Isoforms)IBA
10. Selenoproteins (Selenoprotein)IBA

Therapies and Procedures

1. Therapeutics
2. Anesthesia
3. General Anesthesia
4. Heart Transplantation (Grafting, Heart)
5. Spinal Fusion (Spondylosyndesis)