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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLimb girdle muscular dystrophy, autosomal dominant; differential diagnosis


Short information

Comprehensive differential diagnostic panel for Limb girdle muscular dystrophy, autosomal dominant, comprising 5 guideline-curated and altogether 23 curated genes according to the clinical signs

Number of genes
20 Accredited laboratory test
Examined sequence length
28,6 kb (Core-/Core-canditate-Genes)
97,1 kb (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
CAPN32466NM_000070.3AD, AR
COL6A13087NM_001848.3AD, AR
COL6A23060NM_001849.4AD, AR
COL6A39534NM_004369.4AD, AR
DES1413NM_001927.4AD, AR
LMNA1995NM_170707.4AD, AR
CRYAB528NM_001885.3AD, AR
MYH75808NM_000257.4AD, AR
SYNE126250NM_033071.4AD, AR

Informations about the disease

Clinical Comment

Heterogeneous group of muscular dystrophies with proximal weakness in pelvic + shoulder girdles. Cardiac + respiratory impairment observed in certain forms


  • Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Cardiomyopathy, dilated, 1G (TTN)
  • Allelic: Cardiomyopathy, dilated, 1HH (BAG3)
  • Allelic: Cardiomyopathy, dilated, 1I (DES)
  • Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
  • Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
  • Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
  • Allelic: Cataract 16, multiple types (CRYAB)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Creatine phosphokinase, elevated serum (CAV3)
  • Allelic: Dystonia 27 (COL6A3)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Immunodeficiency 10 (STIM1)
  • Allelic: Immunodeficiency 9 (ORAI1)
  • Allelic: King-Denborough syndrome (RYR1)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Myopathy, distal, 4 (FLNC)
  • Allelic: Myopathy, distal, Tateyama type (CAV3)
  • Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
  • Allelic: Myosclerosis, congenital (COL6A2)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Salih myopathy (TTN)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
  • Allelic: Stormorken syndrome (STIM1)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
  • Central core disease (RYR1)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Emery-Dreifuss muscular dystrophy 5, AD (SYNE2)
  • Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Limb-Girdle Muscular Dystrophy [panelapp] (LMNA)
  • Limb-girdle muscular dystrophy, LGMD1R (LMNA)
  • Muscular dystrophy, limb-girdle, AD 2 (TNPO3)
  • Muscular dystrophy, limb-girdle, AD 3 (HNRNPDL)
  • Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Muscular dystrophy, limb-girdle, type 1A (MYOT)
  • Muscular dystrophy, limb-girdle, type 1C (CAV3)
  • Muscular dystrophy, limb-girdle, type 1E (DNAJB6)
  • Muscular dystrophy, limb-girdle, type 1G (HNRNPDL)
  • Muscular dystrophy, limb-girdle, type 2A (CAPN3)
  • Muscular dystrophy, limb-girdle, type 2R (DES)
  • Muscular dystrophy-dystroglycanopathy, cong. with impaired intell. development, type B, 15 (DPM3)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 15 (DPM3)
  • Myopathy, myofibrillar, 1 (DES)
  • Myopathy, myofibrillar, 2 (CRYAB)
  • Myopathy, myofibrillar, 5 (FLNC)
  • Myopathy, myofibrillar, 6 (BAG3)
  • Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Myopathy, tubular aggregate, 1 (STIM1)
  • Myopathy, tubular aggregate, 2 (ORAI1)
  • Myopathy, vacuolar, with CASQ1 aggregates (CASQ1)
  • Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
  • Rippling muscle disease (CAV3)
  • Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined