Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Collagen VI represents a remarkable extracellular matrix molecule, and in the past few
years, studies of this molecule have revealed its involvement in a wide range of tissues and …

The collagen superfamily of proteins plays a dominant role in maintaining the integrity of
various tissues and also has a number of other important functions. The superfamily now …

Mutations in the three canonical collagen VI genes, COL6A1, COL6A2 and COL6A3, cause
a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich …

Muscular dystrophies represent a heterogeneous group of disorders, which have been
largely classified by clinical phenotype. In the last 10 years, identification of novel skeletal …

Tissue-specific extracellular matrices (ECMs) are crucial for normal development and tissue
function, and mutations in ECM genes result in a wide range of serious inherited connective …

Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause
Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions …

Fibrosis of visceral organs such as the lungs, heart, kidneys and liver remains a major cause
of morbidity and mortality and is also associated with many other disorders, including cancer …

Ullrich syndrome is a recessive congenital muscular dystrophy affecting connective tissue
and muscle. The molecular basis is unknown. Reverse transcription–PCR amplification …

The binding of native biglycan and decorin to pepsin-extracted collagen VI from human
placenta was examined by solid phase assay and by measurement of surface plasmon …