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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.
2019
2019
COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report
BackgroundCollagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy… 
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… 
2005
2005
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.
UNLABELLED Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive… 
1999
1999
Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy.
Muscle biopsies of four patients affected by chromosome 21-linked Bethlem myopathy were investigated by means of… 
1998
1998
Early onset, autosomal recessive muscular dystrophy with Emergy-Dreifuss phenotype and normal emerin expression
Objective: To describe the clinical and histopathologic picture of a childhood-onset, severe variant of scapuloperoneal MD with… 
1997
1997
Bethlem/Bedlam: Methods of Madness?
1995
1995
Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter
1994
1994
A Danish family with limb-girdle muscular dystrophy with autosomal dominant inheritance
1972
1972
Fertility in Obsessional Neurosis
Obsessional neurosis, inasfar as it comes to the attention of the psychiatrist, is a comparatively rare disorder, comprising not… 
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