LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
Prandini
P
P
Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
Berardinelli
A
A
Fanin
M
M
Morello
F
F
Zardini
E
E
Pichiecchio
A
A
Uggetti
C
C
Lanzi
G
G
Angelini
C
C
Pegoraro
E
E
D000293:Adolescent; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007797:Laminin / Q000032:analysis / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
D007797:Laminin; C102645:laminin alpha 2