title: [Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].
abstract: A selective deficiency of a specific laminin isovariant, merosin made of M, B1 and B2 chains, was found in a series of 17 patients affected with congenital muscular dystrophy (CMD). The merosin deficiency was complete in 15 cases, and almost complete in two cases. An overexpression of the laminin A chain was seen in these biopsies, while B1 and B2 chains were normally expressed. Comparison of the clinical data with a series of 18 "merosin-non deficient" cases showed that the "merosin-deficient" cases were forming a more homogenous group than the "non-deficient" one. Hypotonia, contractures, motor development delay were generally more severe in the "merosin-deficient" series of cases. Moreover, white matter alterations were seen in most cases explored by MRI or scan imaging. A genetic linkage with a 6q2 locus, corresponding to the M chain gene localization, was found in a panel of informative families from French and Turkish origin with "merosin deficient" CMD. "Merosin non-deficient" families did not map on this locus. So, the "merosin-deficient" CMD can be considered as a peculiar entity within the group of Congenital Muscular Dystrophies.
authors.affiliation: INSERM Unité 153, Paris.
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: A
authors.initials: A
authors.lastname: Helbling-Leclerc
authors.forename: T
authors.initials: T
authors.lastname: Evangelista
authors.forename: A
authors.initials: A
authors.lastname: Ottolini
authors.forename: M
authors.initials: M
authors.lastname: Chevallay
authors.forename: A
authors.initials: A
authors.lastname: Barois
authors.forename: B
authors.initials: B
authors.lastname: Estournet
authors.forename: J P
authors.initials: JP
authors.lastname: Harpey
authors.forename: S
authors.initials: S
authors.lastname: Fauré
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
authors.forename: D
authors.initials: D
authors.lastname: Hillaire
mesh_terms: D001706:Biopsy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D007797:Laminin / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D008297:Male; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics / Q000473:pathology
chemical_list: D007797:Laminin
vernacular_title: Dystrophie musculaire congénitale avec déficience en mérosine: analyse clinique, histopathologique, immunocytochimique et génétique.