title: Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
abstract: We describe two Scottish siblings affected by a form of congenital muscular dystrophy characterised by a severe clinical phenotype, similar to that observed in the 6q-linked merosin-deficient CMD but in whom brain MRI and cognitive development were normal. The maximal function achieved in the 2 siblings was sitting independently. Serum CK were grossly elevated and the skin and muscle biopsies showed a severe reduction of merosin in both. The normal brain MRI and normal cognitive development distinguish this form from Fukuyama congenital muscular dystrophy, muscle-eye-brain disease or other forms of CMD with secondary partial merosin deficiency and abnormal brain MRI and/or mental retardation. Linkage analysis excluded all the known loci for CMD. We propose that this may represent a novel variant of CMD.
authors.affiliation: Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK. e.mercuri@ic.ac.uk
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: C A
authors.initials: CA
authors.lastname: Sewry
authors.forename: S C
authors.initials: SC
authors.lastname: Brown
authors.forename: M
authors.initials: M
authors.lastname: Brockington
authors.forename: H
authors.initials: H
authors.lastname: Jungbluth
authors.forename: C
authors.initials: C
authors.lastname: DeVile
authors.forename: S
authors.initials: S
authors.lastname: Counsell
authors.forename: A
authors.initials: A
authors.lastname: Manzur
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D001706:Biopsy; D001921:Brain / Q000033:anatomy & histology*; D002675:Child, Preschool; D017931:DNA Primers / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007797:Laminin / Q000172:deficiency* / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D007797:Laminin