Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.
Ann Neurol
; 40(5): 782-91, 1996 Nov.
Article
in En
| MEDLINE
| ID: mdl-8957020
ABSTRACT
Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10 merosin-deficient patients were homogeneous, with severe floppiness at birth, delay in achievement of motor milestones, and magnetic resonance imaging findings of white matter changes with normal intelligence. The 10-kb laminin alpha2-coding sequence was screened for causative mutations by reverse transcriptase-polymerase chain reaction/single-stranded conformational polymorphism analysis in muscle biopsy specimens from 5 patients, followed by automatic sequencing of aberrant conformers. Clear loss-of-function deletion mutations were identified in both alleles of 1 patient. Muscle histopathology in this patient showed a striking inflammatory infiltrate of T cells and B cells. Reexamination of biopsy specimens from other laminin alpha2-deficient patients showed minor signs of inflammation in each. Based on these findings and the histological and clinical picture suggesting failure of muscle regeneration, a pathogenesis model for this major subset of congenital muscular dystrophy is proposed. Our data show that muscle histopathology showing a neonatal inflammatory process should be considered consistent with congenital muscular dystrophy.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Laminin
/
Polymyositis
/
Polymorphism, Single-Stranded Conformational
/
Muscle, Skeletal
/
Muscular Dystrophies
Type of study:
Prognostic_studies
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Middle aged
/
Newborn
Language:
En
Journal:
Ann Neurol
Year:
1996
Document type:
Article
Affiliation country:
United States