Twelve girls and 2 boys with severe but not congenital muscular dystrophy were found in a national survey. An autosomal recessive gene is likely to account for most if not all of these cases. The condition differs slightly from X-linked Duchenne muscular dystrophy in showing prominent early toe-walking, a milder course, relatively more weakness of the deltoid muscles, normal intelligence, a nor...

OBJECTIVES The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contractures. Inheritance can be dominant negative (DN) or recessive depending on the type and location of th...

Sixteen participants from Austria, France, Germany, Italy, the Netherlands and the UK met to discuss the cardiac implications of the diagnosis of muscular dystrophy and myotonic dystrophy. The group included both myologists and cardiologists from nine different European centers. The aims of the workshop were to agree and report minimum recommendations for the investigation and treatment of card...

Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature. Merosin deficient congenital muscular dystrophy (MDC1A) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2). Laminin-α2 is an extracellular matrix protein that...

Mutations in the gene encoding fukutin-related protein (FKRP) cause a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies with brain malformations and mental retardation. Whilst these diseases are associated with abnormal dystroglycan processing the cellular consequences of the idiosyncratic...

facioscapulohumeral muscular dystrophy (fshd)is characterized by weakness of the facial, scapular muscles  and the dorsiflexors of the foot. severity in this disorder is highly variable. approximately 95% of individuals with fshd phenotype have type 1 fshd, with d4z4 allele of between one and ten repeat units and about 5% have type 2 fshd with mutations in the chromatin modifier smchd1gene whic...

Congenital muscular dystrophies are a group of heterogeneous inherited autosomal recessive disorders. The so-called 'pure' or 'occidental' form is further divided into merosin-positive and merosin-negative subgroups. Merosin is also expressed in the nervous system and its deficiency could affect development of the nervous system. The authors report two siblings with merosin-negative congenital ...

Dystrophin, a gene product that is mutated in individuals with Duchenne muscular dystrophy, is tethered to the extracellular matrix via membrane-associated multimolecular complexes. In striated muscle cells this complex contains two glycoprotein subcomplexes, the sarcoglycan (SG) and dystroglycan (DG) complexes. Disruption of these large transmembrane complexes has been shown to result in muscl...