Laminopatie Tessuto-SpecificheTissue-Specific laminopathies
 
 
 
 
 
 
 
 
   LaminopathiesTissue-Specific laminopathies

TISSUE-SPECIFIC LAMINOPATHIES

 

  • EMERY-DREIFUSS MUSCULAR DYSTROPHY

Emery-Dreifuss muscular dystrophy (EDMD) affects skeletal and cardiac muscles. Onset is in late infancy or adolescence. Sudden death may occur due to heart defects.

Genes Table

 

 

  • LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 1B 

Limb girdle muscular dystrophy type 1 B (LGMD1B) affects skeletal and cardiac muscles. Onset is in late infancy or adolescence. Sudden death may occur due to heart defects.

Genes Table

 

 

  • DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECTS

 Dilated cardiomyopathy with conduction defects (CMD-DC)  affects cardiac muscle. Dilatation of the heart cavities or conduction defects may occur. Sudden death may occur. 

Genes Table

 

 

  • DUNNIGAN-TYPE FAMILIAR PARTIAL LIPODYSTROPHY

Dunnigan-type familial partial lipodystrophy (FPLD2) is a genetic disorder affecting adipose tissue. Loss of adipose tissue from legs and arms and accumulation of fat in the neck characterize the disorder. Metabolic problems including hyperinsulinemia, insulin resistance and type 2 diabetes occur in FPLD2.

Genes Table


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