OBJECTIVE: To minimize the uncertainty in clinical diagnosis and improve the classification
of 14 Tunisian patients belonging to 12 families and affected with congenital muscular …

Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2
gene encoding laminin‐α2. We describe the molecular study of 26 patients with clinical …

Nonsense mutations outside the splicing consensus sequence have been reported to cause
skipping of the nonsense-containing exon in several human diseases. We describe, for the …

Objective To determine if laminin-α2 deficiency is due to mutations in theLAMA2gene or
secondary to mutations in other congenital muscular dystrophy genes. Methods We …

In the Caucasian population, patients affected by the most frequent forms of congenital
muscular dystrophies (MDC) are commonly divided into two groups. The first is …

Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous
group of neuromuscular disorders, with autosomal recessive inheritance. We report a patient …

Background Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2
gene that encodes the laminin α2 chain, a component of the skeletal muscle extracellular …

The laminin α2 subunit is a protein encoded by the laminin α2 gene (LAMA2) which has the
role of adhesion (attachment of cells to one another). Genetics consideration showed that …

Primary deficiency of laminin alpha-2 due to mutations in the LAMA2 gene accounts for 30%
of all patients with congenital muscular dystrophy. Here, we present seven patients with …

We report two siblings, an 11-year-old boy and his 7-year-old sister, referred to us with a
diagnosis of muscular dystrophy. The boy presented at 22 months with delay in walking. A …