In 1879 William Gowers, the eminent British neurologist, painted a remarkably lucid word picture of Duchenne muscular dystrophy in his series of lectures on pseudohypertrophic muscular paralysis, published in the Lancet.' This disease, he said, is one of the most interesting, and at the same time most sad, of all those with which we have to deal; interesting because of its peculiar features and...

Initial reports of patients with laminin alpha2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle weakness, inability to achieve independent ambulation, markedly raised creatine kinase, and characteristic white matter hypodensity on cerebral magnetic resonance imaging. We report a series of five p...

Muscular dystrophies are a group of diseases that primarily affect skeletal muscle and are characterized by progressive muscle wasting and weakness. Although these diseases have been clinically recognized for a number of years, genetic defects in a number of muscular dystrophies have only recently been identified. One of the most important advances in understanding the molecular genetics of neu...

We measured with a radioimmunoassay the concentrations of carbonic anhydrase III (CA-III, EC 4.2.1.1) in sera from 68 patients with muscular dystrophy, 10 carriers of Duchenne muscular dystrophy (DMD), and 63 patients with other neurological disorders. The values obtained were compared with those for creatine kinase (CK, EC 2.7.3.2). Serum CA-III was strikingly increased in patients with DMD (m...

Muscular dystrophies are a group of diseases that primarily affect skeletal muscle and are characterized by progressive muscle wasting and weakness. Although these diseases have been clinically recognized for a number of years, genetic defects in a number of muscular dystrophies have only recently been identified. One of the most important advances in understanding the molecular genetics of neu...

Loss-of-function mutations in the Fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) and other forms of congenital muscular dystrophy-dystroglycanopathy that are associated with glycosylation defects in the α-dystroglycan (α-DG) protein. Systemic administration of a single dose of recombinant adeno-associated virus serotype 9 (AAV9) vector expressing human...

The dystroglycanopathies comprise a clinically and genetically heterogeneous group of muscular dystrophies characterized by deficient glycosylation of alpha-dystroglycan. Mutations in the fukutin (FKTN) gene have primarily been identified among patients with classic Fukuyama congenital muscular dystrophy (FCMD), a severe form of dystroglycanopathy characterized by CMD, cobblestone lissencephaly...

The dystrophin distribution in the plasma muscle membrane using immunohystochemistry was studied in 22 children with congenital muscular dystrophy. The dystrophin was detected by immunofluorescence in muscle biopsy through a polyclonal antibody. All the cases had patchy interruptions of the fluorescence in the plasma membrane. A large patchy interruption of the sarcolemma was found in 17 cases,...

Neuromuscular disorders (NMDs) are a group of genetic disorders that affect the peripheral nervous system and muscle, consequently leading to a significant disability in children as well as in adults. NMDs include more than 200 monogenic disorders with a total incidence exceeding 1 in 3,000 [1]. Some of the more extreme diseases in the spectrum include amyotrophic lateral sclerosis (ALS), conge...