title: LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Prandini
authors.forename: A
authors.initials: A
authors.lastname: Berardinelli
authors.forename: M
authors.initials: M
authors.lastname: Fanin
authors.forename: F
authors.initials: F
authors.lastname: Morello
authors.forename: E
authors.initials: E
authors.lastname: Zardini
authors.forename: A
authors.initials: A
authors.lastname: Pichiecchio
authors.forename: C
authors.initials: C
authors.lastname: Uggetti
authors.forename: G
authors.initials: G
authors.lastname: Lanzi
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: E
authors.initials: E
authors.lastname: Pegoraro
mesh_terms: 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
chemical_list: D007797:Laminin; C102645:laminin alpha 2