Deutsch
IllnessGliedergürtel-Muskeldystrophie, X-chromosomal; Differentialdiagnose
Summary
Short information
GP0043_KI
ID
GP0043
Number of loci
| Loci type | Count |
|---|---|
| Gen | 7 |
Examined sequence length
8,6 kb (Core-/Core-canditate-Genes)
19,7 kb (Extended panel: incl. additional genes)
19,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
GP0043_DH
Loci panel
Informations about the disease
Clinical Comment
illness_ClinicalComment_GP0043
Synonyms
- Alias formerly: Lsysosomal glycogen storage disease without acid maltase deficiency (LAMP2)
- Alias: Glycogen storage disease IIb (LAMP2)
- Alias: Pseudoglycogenosis II (LAMP2)
- Alias: Vacuolar cardiomyopathy + myopathy, XL (LAMP2)
- Allelic: Cardiomyopathy, dilated, 3B (DMD)
- Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
- Allelic: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
- Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
- Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
- Antopol disease (LAMP2)
- Becker muscular dystrophy (DMD)
- Danon disease (LAMP2)
- Duchenne muscular dystrophy (DMD)
- Emery-Dreifuss muscular dystrophy 1, XL (EMD)
- Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
- Muscle glycogenosis (PHKA1)
- Myopathy, XL, with excessive autophagy (VMA21)
- Myotubular myopathy, XL (MTM1)
- Scapuloperoneal myopathy, XLD (FHL1)
Heredity, heredity patterns etc.
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined