Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis, Uluc
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
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