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muscular dystrophy type 1C (MDC1C)
Pathology:
- skeletal muscle biopsy
- dystrophic changes
- secondary deficiency of laminin alpha2
- marked reduction in alpha-dystroglycan expression
Genetics:
- autosomal recessive
- associated with defects in FKRP gene
Clinical manifestations:
1) hypotonia, muscle weakness, & joint contractures at birth or during the 1st weeks of life
2) mental retardation with or without structural CNS changes may occur in a subset of patients
3) inability to walk
4) muscle hypertrophy
Laboratory:
- marked elevation of serum creatine kinase
Related
limb-girdle muscular dystrophy type 1C (LGMD1C)
General
muscular dystrophy
Database Correlations
OMIM 606612
References
OMIM :accession 606612