title: Congenital muscular dystrophy with partial deficiency of merosin.
abstract: We present a Japanese patient who has congenital muscular dystrophy, with partial merosin deficiency. The patient had characteristic findings of clinical features and brain MRI. Muscle biopsy showed advanced muscular dystrophy, with greatly reduced muscle fibers and massive infiltration of interstitial connective and fatty tissues. On immunostaining for cytoskeletal proteins, merosin was greatly reduced. The other cytoskeletal proteins, including dystrophin and 50 kDa alpha-sarcoglycan were normally expressed around all muscle fibers.
authors.affiliation: School of Health Sciences, Sapporo Medical University, Japan. tati@shs.sapmed.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: S
authors.initials: S
authors.lastname: Kamimura
authors.forename: K
authors.initials: K
authors.lastname: Ohya
authors.forename: S
authors.initials: S
authors.lastname: Chiba
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
mesh_terms: D002675:Child, Preschool; D006801:Humans; D007797:Laminin / Q000172:deficiency*; D008279:Magnetic Resonance Imaging; D008297:Male; D009124:Muscle Proteins / Q000172:deficiency*; D009136:Muscular Dystrophies / Q000151:congenital* / Q000503:physiopathology
chemical_list: D007797:Laminin; D009124:Muscle Proteins