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muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4)
Pathology:
- congenital muscular dystrophy
- dystroglycanopathy
Genetics:
- autosomal recessive
- associated with defects in futukin (FKTN)
Clinical manifestations:
- generalized weakness
- absence of mental retardation
Laboratory:
- increased serum creatine kinase
Radiology:
- magnetic resonance imaging:
- mild white matter changes in some cases
General
muscular dystrophy
Database Correlations
OMIM 613152
References
- OMIM :accession 613152