Skip to search formSkip to main contentSkip to account menu

Bethlem myopathy

Known as: Myopathy, benign congenital, with contractures, Benign Congenital Muscular Dystrophy, BTHLM1 
A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by… 
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal dominant inheritanceAutosomal recessive inheritanceCOL6A1, LYS121ARGCongenital torticollis

Broader (1)

Muscular Dystrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Two novel COL 6 A 3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum
  • Jun
  • 2018
  • Corpus ID: 51989676
Here we present a case report of collagen VI related myopathy in a patient, 8 ​y.o. boy, with intermediate phenotype between… 
2016
2016
A presença da cultura alemã nas escolas e instituições do Sul e a repercussão da Campanha de Nacionalização nos Estados da região (1937-1945).
O projeto buscara analisar como as especificidades culturais das principais colonias alemas na regiao Sul levaram o regime do… 
Review
2011
Review
2011
Separate Theaters: Bethlem ("Bedlam") Hospital and the Shakespearean Stage (review)
2010
2010
Bitter treats for better breathing
A new study in mice and human tissue shows that activation of bitter taste receptors in the airways relaxes airway smooth muscle… 
2007
2007
Cardiac involvement in Bethlem myopathy.
2000
2000
A pedigree study on benign congenital muscular dystrophy
Aim:To study the clinicopathologic manifestation of a pedigree of autosomal dominant benign congenital muscular dystrophy (BCMD… 
1997
1997
Bethlem/Bedlam: Methods of Madness?
1997
1997
Edward HareDonald McLartyPhilip Edmund Clinton Manson-BahrMichael O'SullivanRobert William Trainer MasonDesmond Richard Levinge NewtonIan Rea SmithKenneth Arthur TomlinsonJune Rosalind Wilkie (ne…
# Edward Hare {#article-title-2} ![][1] The son of a clergyman, Edward Hare first read biochemistry at Cambridge before… 
1989
1989
Bethlem Gabor, Lord of Transylvania, or, The man hating Palatine : an historical drama in three acts
1986
1986
[An adult case of benign congenital muscular dystrophy (non-Fukuyama type)].
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)