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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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Short information

Curated single gene sequence analysis according to the clinical suspicion Desminopathy

Number of genes
1 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
DES1413NM_001927.4AD, AR

Informations about the disease

Clinical Comment

Skeletal muscle disease with abnormal chimeric desmin aggregates + other cytoskeletal proteins + granulofilamentous material muscle ultrastructure + variable clinical myopathology, AO + progression. Bilateral skeletal muscle weakness distal leg muscles, then proximally, sometimes trunk, neck flexors + facial muscles; often cardiomyopathy, conduction blocks, arrhythmias, chronic heart failure, sometimes tachyarrhythmia. Weakness eventually to wheelchair. Respiratory insufficiency, disability + death, beginning with nocturnal hypoventilation with oxygen desaturation + progressing to daytime respiratory failure.


  • Alias: Desmin-related myofibrillar myopathy (DES)
  • Alias: Desminopathy (DES)
  • Alias: Muscular dystrophy, limb-girdle, type 2R (DES)
  • Alias: Myopathy, myofibrillar, 1 (DES)
  • Alias: Stark-Kaeser syndrome (DES)
  • Allelic: Arrhythmogenic right ventricular dysplasia, familial, 7 (DES)
  • Allelic: Cardiomyopathy, dilatated, 1I (DES)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
Heredity, heredity patterns etc.
  • AD
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined