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Congenital Structural Myopathies (Centronuclear Myopathy)

A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Also Known As:
Centronuclear Myopathy; Myotubular Myopathy; Myopathy, Myotubular; Myopathy, Centronuclear; Congenital Fiber Type Disproportion; Myopathies, Structural, Congenital; Autosomal Dominant Myotubular Myopathy; Autosomal Recessive Centronuclear Myopathy; CFTDM; Congenital Fiber-Type Disproportion; Congenital Myopathy with Fiber Type Disproportion; Congenital Non-Progressive Myopathies; Fiber-Type Disproportion Myopathy, Congenital; Myopathy, Centronuclear, 1; Myopathy, Centronuclear, Autosomal Dominant; Myopathy, Congenital, With Fiber-Type Disproportion; Myopathy, Tubular Aggregate; Myotubular Myopathy 1; Myotubular Myopathy, Autosomal Dominant; Myotubular Myopathy, X-Linked; Non-Progressive Myopathies, Congenital; Structural Myopathies, Congenital; X-Linked Centronuclear Myopathy; X-Linked Myotubular Myopathy; XLMTM; Aggregate Myopathies, Tubular; Aggregate Myopathy, Tubular; Centronuclear Myopathies; Centronuclear Myopathies, X-Linked; Centronuclear Myopathy, X-Linked; Congenital Fiber-Type Disproportions; Congenital Non Progressive Myopathies; Congenital Non-Progressive Myopathy; Congenital Structural Myopathy; Disproportion, Congenital Fiber-Type; Disproportions, Congenital Fiber-Type; Fiber Type Disproportion Myopathy, Congenital; Fiber-Type Disproportion, Congenital; Fiber-Type Disproportions, Congenital; Myopathies, Centronuclear; Myopathies, Congenital Non-Progressive; Myopathies, Congenital Structural; Myopathies, Myotubular; Myopathies, Tubular Aggregate; Myopathies, X-Linked Centronuclear; Myopathies, X-Linked Myotubular; Myopathy, Congenital Non-Progressive; Myopathy, Congenital Structural; Myopathy, X-Linked Centronuclear; Myopathy, X-Linked Myotubular; Myotubular Myopathies; Myotubular Myopathies, X-Linked; Myotubular Myopathy, X Linked; Non Progressive Myopathies, Congenital; Non-Progressive Myopathy, Congenital; Structural Myopathy, Congenital; Tubular Aggregate Myopathies; X Linked Centronuclear Myopathy; X Linked Myotubular Myopathy; X-Linked Centronuclear Myopathies; X-Linked Myotubular Myopathies; Tubular Aggregate Myopathy
Networked: 407 relevant articles (11 outcomes, 27 trials/studies)

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Disease Context: Research Results

Related Diseases

1. Muscular Diseases (Myopathy)
2. Central Core Myopathy (Central Core Disease)
3. Spinal Muscular Atrophy (Progressive Muscular Atrophy)
4. Atrophy
5. Distal Myopathies (Distal Muscular Dystrophy)

Experts

1. Laporte, Jocelyn: 71 articles (01/2022 - 02/2002)
2. Beggs, Alan H: 28 articles (01/2022 - 11/2005)
3. Bitoun, Marc: 24 articles (03/2022 - 11/2005)
4. Cowling, Belinda S: 22 articles (01/2022 - 05/2011)
5. Kretz, Christine: 21 articles (01/2022 - 11/2006)
6. Romero, Norma B: 20 articles (01/2022 - 11/2005)
7. Lawlor, Michael W: 18 articles (01/2022 - 02/2010)
8. Guicheney, Pascale: 18 articles (01/2019 - 11/2005)
9. Mandel, Jean-Louis: 17 articles (12/2014 - 02/2002)
10. Dowling, James J: 16 articles (01/2022 - 02/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Structural Myopathies:
1. Dynamin IIIBA
2. myotubularinIBA
3. TamoxifenFDA LinkGeneric
4. Phosphoric Monoester Hydrolases (Phosphatases)IBA
5. Protein Isoforms (Isoforms)IBA
6. Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric
7. Valproic Acid (Depakote)FDA LinkGeneric
8. Cholinesterase Inhibitors (Anticholinesterases)IBA
9. Dynamins (Dynamin)IBA
10. Proteins (Proteins, Gene)FDA Link

Therapies and Procedures

1. Therapeutics
2. Intravenous Administration
3. Mechanical Ventilators (Ventilator)
4. Artificial Respiration (Mechanical Ventilation)
5. Enzyme Replacement Therapy