A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.

Goldberg, L R

A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. [electronic resource] - Annals of neurology Dec 1998 - 971-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0364-5134

10.1002/ana.410440619 doi


Amino Acid Sequence--genetics
Base Sequence--genetics
Child
Child, Preschool
Cytoskeletal Proteins--metabolism
DNA, Complementary--genetics
Dystroglycans
Dystrophin--genetics
Genetic Linkage--genetics
Humans
Laminin--metabolism
Male
Membrane Glycoproteins--metabolism
Molecular Sequence Data
Muscles--metabolism
Mutation, Missense--genetics
Pedigree
Phenotype
Sarcoglycans
X Chromosome--genetics