TY  - GEN
AU  - Yis,Uluc
AU  - Uyanik,Gökhan
AU  - Heck,Pinar Bambul
AU  - Smitka,Martin
AU  - Nobel,Hannes
AU  - Ebinger,Friedrich
AU  - Dirik,Eray
AU  - Feng,Lucy
AU  - Kurul,Semra H
AU  - Brocke,Katja
AU  - Unalp,Aycan
AU  - Özer,Erdener
AU  - Cakmakci,Handan
AU  - Sewry,Caroline
AU  - Cirak,Sebahattin
AU  - Muntoni,Francesco
AU  - Hehr,Ute
AU  - Morris-Rosendahl,Deborah J
TI  - Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype
SN  - 1873-2364
PY  - 2011///0421
KW  - Cerebellum
KW  - pathology
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Exons
KW  - genetics
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Magnetic Resonance Imaging
KW  - methods
KW  - Male
KW  - Membrane Proteins
KW  - Muscle, Skeletal
KW  - Muscular Dystrophies
KW  - congenital
KW  - Mutation
KW  - Neurologic Examination
KW  - Phenotype
KW  - Severity of Illness Index
KW  - Walker-Warburg Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.nmd.2010.08.007
ER  -