Collagen VI related muscle disorders
نویسندگان
چکیده
منابع مشابه
Collagen VI related muscle disorders.
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosoma...
متن کاملCollagen Type VI-Related Disorders Panel
The collagen type VI-related disorders are nowadays considered to be a continuum of overlapping phenotypes with Bethlem myopathy at the mild end and Ullrich congenital muscular dystrophy (UCMD) at the severe end. In between these phenotypes there are collagen type VI-related limb-girdle muscular dystrophy and myosclerosis myopathy. Most cases of Bethlem myopathy have autosomal dominant inherita...
متن کاملCollagen VI-related myopathy
Synonyms Spectrum of phenotypes: Mild: Bethlem myopathy/ benign congenital muscular dystrophy Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy First described by Ullrich in 1930 and Bethlem in 1976 respectively [1]. Caused by mutations in any of the 3 genes which code for collagen type VI synthesis, COL6...
متن کاملZebrafish models of collagen VI-related myopathies
Collagen VI is an integral part of the skeletal muscle extracellular matrix, providing mechanical stability and facilitating matrix-dependent cell signaling. Mutations in collagen VI result in either Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM), with UCMD being clinically more severe. Recent studies demonstrating increased apoptosis and abnormal mitochondrial function i...
متن کاملUltrastructural changes in muscle cells of patients with collagen VI-related myopathies.
Collagen VI is an extracellular matrix protein expressed in several tissues including skeletal muscle. Mutations in COL6A genes cause Bethlem Myopathy (BM), Ullrich Congenital Muscular Dystrophy (UCMD) and Myosclerosis Myopathy (MM). Collagen VI deficiency causes increased opening of the mitochondrial permeability transition pore (mPTP), leading to ultrastructural and functional alterations of ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2002.002311