Dystrophinopathies.
The discovery of the subsarcolemmal muscle fiber protein dystrophin has, to a certain extent, replaced former nosological terms of Duchenne (DMD) and Becker (BMD) muscular dystrophies by the term dystrophinopathies. The immunohistochemical and Western blot analysis of dystrophin has not only enlarged the clinical spectrum of dystrophinopathies, but has also made carrier detection of DMD more reliable, particularly in manifesting carriers without family history. Moreover, prenatal muscle biopsy, under selected circumstances, can show presence or absence of dystrophin, ie, in the latter case an affected male fetus. Molecular genetics have provided a wealth of genetic details in the dystrophinopathies, but therapy has not yet succeeded to a similar extent, on the contrary, myoblast transplantation has not resulted in any clinical improvement.
Reitter
B
B
Department of Pediatrics, Mainz University Medical Center, Germany.
Goebel
H H
HH
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis
D016189:Dystrophin