Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. [electronic resource]
- Neuromuscular disorders : NMD Jan 2011
- 20-30 p. digital
Publication Type: Case Reports; Journal Article
1873-2364
10.1016/j.nmd.2010.08.007 doi
Cerebellum--pathology Child, Preschool DNA Mutational Analysis Exons--genetics Female Genotype Humans Infant Introns--genetics Magnetic Resonance Imaging--methods Male Membrane Proteins--genetics Muscle, Skeletal--pathology Muscular Dystrophies--congenital Mutation--genetics Neurologic Examination Phenotype Severity of Illness Index Walker-Warburg Syndrome--genetics