The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Our series highlights the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. Muscle MRI is extremely useful as it shows a pathognomonic pattern in most patients, especially those wi...
A family of five male siblings (three survivors at 48, 53 and 58 years old; two deceased at 8 months...
Objective: Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) caus...
International audienceBackground: Dominant and recessive autosomal pathogenic variants in the three ...
\ua9 2016 - IOS Press and the authors. All rights reserved.The classical phenotypes of collagen VI-a...
Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heteroge...
BACKGROUND: Bethlem myopathy is a well-defined clinical entity among collagen VI disorders, featurin...
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mu...
Bethlem myopathy represents the milder form of the spectrum of Collagen VI-related dystrophies, whic...
Bethlem myopathy (BM) is a disease that is caused by mutations in the collagen VI genes. It is a mil...
ObjectiveDominant mutations in the three collagen VI genes cause Bethlem myopathy, a disorder charac...
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM)...
BACKGROUND AND PURPOSE: Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Be...
International audienceBackground: Dominant and recessive autosomal pathogenic variants in the three ...
Mutations in the genes that code for type VI collagen can lead to what are known as the collagenopat...
A family of five male siblings (three survivors at 48, 53 and 58 years old; two deceased at 8 months...
Objective: Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) caus...
International audienceBackground: Dominant and recessive autosomal pathogenic variants in the three ...
\ua9 2016 - IOS Press and the authors. All rights reserved.The classical phenotypes of collagen VI-a...
Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heteroge...
BACKGROUND: Bethlem myopathy is a well-defined clinical entity among collagen VI disorders, featurin...
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mu...
Bethlem myopathy represents the milder form of the spectrum of Collagen VI-related dystrophies, whic...
Bethlem myopathy (BM) is a disease that is caused by mutations in the collagen VI genes. It is a mil...
ObjectiveDominant mutations in the three collagen VI genes cause Bethlem myopathy, a disorder charac...
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM)...
BACKGROUND AND PURPOSE: Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Be...
International audienceBackground: Dominant and recessive autosomal pathogenic variants in the three ...
Mutations in the genes that code for type VI collagen can lead to what are known as the collagenopat...
A family of five male siblings (three survivors at 48, 53 and 58 years old; two deceased at 8 months...
Objective: Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) caus...
International audienceBackground: Dominant and recessive autosomal pathogenic variants in the three ...