Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

Matsumoto, Hiroshi

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. [electronic resource] - Neuromuscular disorders : NMD May 2005 - 342-8 p. digital

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

0960-8966

10.1016/j.nmd.2005.01.009 doi


Blotting, Western
Brain--pathology
Child, Preschool
DNA Mutational Analysis
Dystroglycans--deficiency
Electroencephalography--methods
Female
Glycosylation
Guanine Nucleotide Exchange Factors--genetics
Humans
Immunohistochemistry--methods
Infant
Japan--epidemiology
Magnetic Resonance Imaging--methods
Male
Mannosyltransferases--genetics
Membrane Proteins
Muscle, Skeletal--metabolism
Muscular Dystrophies--genetics
Mutation
N-Acetylglucosaminyltransferases--genetics
Pentosyltransferases
Polymorphism, Single-Stranded Conformational
Proteins--genetics
Rho Guanine Nucleotide Exchange Factors
Staining and Labeling--methods