Article
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie - 1 Jan 1994
Romero N B, Tomé F M, Leturcq F, el Kerch F E, Azibi K, Bachner L, Anderson R D, Roberds S L, Campbell K P, Fardeau M
Abstract excerpt
Severe autosomal recessive muscular dystrophy (SCARMD), McKusick n. 253700, has been originally described in North-African populations, in which significant linkage has been established with DNA markers mapping to the proximal region of the long arm of chromosome 13, without evidence for heteroge...
Topics
- Adolescent
- Child
- Creatine Kinase
- Cytoskeletal Proteins
- Female
- Genes, Recessive
- Genetic Variation
- Histocytochemistry
- Humans
- Male
- Membrane Glycoproteins
- Muscles
- Muscular Dystrophies
- Pedigree
- Sarcoglycans