TY  - GEN
AU  - Prandini,P
AU  - Berardinelli,A
AU  - Fanin,M
AU  - Morello,F
AU  - Zardini,E
AU  - Pichiecchio,A
AU  - Uggetti,C
AU  - Lanzi,G
AU  - Angelini,C
AU  - Pegoraro,E
TI  - LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy
SN  - 1526-632X
PY  - 2005///0518
KW  - Adolescent
KW  - Biopsy
KW  - Brain
KW  - pathology
KW  - Child
KW  - Chromosomes, Human, Pair 6
KW  - genetics
KW  - Exons
KW  - Female
KW  - Genes, Recessive
KW  - Homozygote
KW  - Humans
KW  - Intellectual Disability
KW  - Laminin
KW  - analysis
KW  - Magnetic Resonance Imaging
KW  - Muscle, Skeletal
KW  - chemistry
KW  - Muscular Dystrophies
KW  - congenital
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000138498.66940.7f
ER  -