PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “PROGRESSIVE MUSCULAR DYSTROPHY”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 397 records · Page 22Linked to original sources
PubMed1996

Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.

A reclassification of the limb-girdle types of autosomal recessive muscular dystrophy based on genetic and protein information has been made possible by major advances over the past 2 years. At least six different forms of limb-girdle types of autosomal recessive muscular dystrophy can be defined by their genetic basis, with at least two pathogenic mechanisms involved. Three forms are defined by involvement of different proteins of the sarcoglycan complex, while a muscle specific protease (calpain 3) is implicated in another form of the recessive disease. These findings provide the basis for a new diagnostic approach to the group, with molecular techniques now an essential part of the diagnostic process. A scheme for diagnosis in this group is proposed.

Cytoskeletal Proteins↗
PubMed1983

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase. The clinical, biochemical and genetic findings in ths exceptional family are reported and discussed.

Adrenal Hyperplasia, Congenital↗
PubMed1991

Dystrophin abnormality in progressive muscular dystrophy--a review article.

Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder of muscle in children, with an incidence of approximately 1 in 3,300 male births. In about a third of affected boys, the disease is due to a new mutation, and most patients die in their early 20s. Over the last few years, the genetic, biochemical and histopathological basis of DMD has been elucidated greatly. In particular, the discovery of "dystrophin," the protein product of the DMD gene is truly an epoch-making success in the history of muscular dystrophy research. Dystrophin is now thought to be a cytoskeletal protein underlying the plasma membrane (known in muscle as the sarcolemma) of normal muscle fiber, and is undetectable or greatly reduced in DMD. In this review article, dystrophin in normal skeletal muscle and various neuromuscular diseases including DMD/BMD (Becker muscular dystrophy), and its carrier is discussed.

Child↗