title: Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.
abstract: It is becoming evident that clinical phenotypes associated with partial laminin alpha2 chain deficiency are variable. We recently observed a 29-year-old man with leukoencephalopathy and vacuolar myopathy resembling inclusion body myositis. Laminin alpha2 immunohistochemical analysis showed reduction of the protein on muscle fiber surfaces. Molecular analysis revealed two novel compound heterozygous mutations in the LAMA2 gene. This is the first report linking a mutation in the LaMA2 gene with leukoencephalopathy and inclusion body-like myositis.
authors.affiliation: Department of Neuromuscular Diseases, Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Di Blasi
authors.forename: M
authors.initials: M
authors.lastname: Mora
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
authors.forename: L
authors.initials: L
authors.lastname: Farina
authors.forename: A
authors.initials: A
authors.lastname: Sghirlanzoni
authors.forename: N
authors.initials: N
authors.lastname: Vignier
authors.forename: F
authors.initials: F
authors.lastname: Blasevich
authors.forename: F
authors.initials: F
authors.lastname: Cornelio
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
authors.forename: L
authors.initials: L
authors.lastname: Morandi
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology*; D003937:Diagnosis, Differential; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D007797:Laminin / Q000032:analysis / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D009220:Myositis / Q000235:genetics* / Q000473:pathology*; D018979:Myositis, Inclusion Body / Q000473:pathology; D010375:Pedigree; D014617:Vacuoles / Q000473:pathology / Q000648:ultrastructure
chemical_list: D007797:Laminin; C102645:laminin alpha 2