Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. [electronic resource]
Producer: 20110421Description: 20-30 p. digitalISSN:- 1873-2364
- 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
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Publication Type: Case Reports; Journal Article
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