Laminin and collagen IV are components of most basal laminae (BLs). Recently, both have been shown to be products of multigene families. The A, B1, and B2 subunits of the laminin trimer are products of related genes, and the BL components merosin M and s-laminin are homologues of the A and B1 subunits, respectively. Similarly, five related collagen IV chains, alpha 1(IV)-alpha 5(IV), have been ...

Muscular dystrophies are a heterogeneous inherited group of disorders characterized by variable distribution weakness, various ages onset, the pattern inheritance, rate progression, and clinical severity. Muscle degeneration regeneration characterize muscle biopsy these typically associated with elevated serum creatine kinase. Objective: We wanted to study characteristics patients genetic corre...

BACKGROUND Merosin-deficient congenital muscular dystrophy (MDC1A) is caused by a loss of Laminin-α2. Secondary manifestations include failed regeneration, inflammation, and fibrosis; however, specific pathomechanisms remain unknown. OBJECTIVES Using the LAMA2DyW (DyW) mouse model of MDC1A, we sought to determine if Integrin-αV and -α5, known drivers of pathology in other diseases,...

The aim of this study was to characterize the clinical and genetic features of a 4-year-old female with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). MDC1A is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22-23. Clinical presentation, as well as the results of neuro-imaging, electr...