Bethlem Myopathy

Common Name(s)

Bethlem Myopathy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bethlem Myopathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bethlem Myopathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bethlem Myopathy" returned 12 free, full-text research articles on human participants. First 3 results:

Spontaneous keloid formation in patients with Bethlem myopathy.
 

Author(s): James Collins, A Reghan Foley, Volker Straub, Carsten G Bönnemann

Journal: Neurology. 2012 Nov;79(21):2158.

 

A 32-year-old woman and a 50-year-old man with clinically typical Bethlem myopathy developed seemingly spontaneous keloids on their shoulder region (figure). The patients did not recall any significant trauma to their skin in these regions.

Last Updated: 21 Nov 2012

Go To URL
Bethlem myopathy: a study of two families.
 

Author(s): A Nalini, N Gayathri

Journal: Neurol India. ;58(4):665-6.

 

Last Updated: 26 Aug 2010

Go To URL
Autosomal recessive inheritance of classic Bethlem myopathy.
 

Author(s): A Reghan Foley, Ying Hu, Yaqun Zou, Alexandra Columbus, John Shoffner, Diane M Dunn, Robert B Weiss, Carsten G Bönnemann

Journal: Neuromuscul. Disord.. 2009 Dec;19(12):813-7.

 

Mutations in the collagen VI genes (COL6A1, COL6A2 and COL6A3) result in Ullrich congenital muscular dystrophy (CMD), Bethlem myopathy or phenotypes intermediate between Ullrich CMD and Bethlem myopathy. While Ullrich CMD can be caused by either recessively or dominantly acting mutations, ...

Last Updated: 25 Nov 2009

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bethlem Myopathy" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 13 Nov 2013

Go to URL