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IllnessMyopathy, tubular aggregated; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Myopathy, tubular aggregated, comprising 7 core candidate genes and altogether 15 curated genes according to the clinical signs

ID
MP9283
Number of genes
9 Accredited laboratory test
Examined sequence length
8,2 kb (Core-/Core-canditate-Genes)
13,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ALG14651NM_144988.4AR
ALG21251NM_033087.4AR
DPAGT11227NM_001382.4AR
GFPT12046NM_001244710.2AR
ORAI1912NM_032790.3AD
STIM12058NM_003156.4AD
DMPK1920NM_001081563.2AD
GMPPB1164NM_013334.4AR
PREPL1998NM_001042385.2AR

Informations about the disease

Clinical Comment

Congenital myopathy with tubular aggregates in the subsarcolemmal region; slowly progressive proximal muscle weakness predominantly lower limbs, periodic paralysis, post-exertion muscle cramps, muscle pain. Ophthalmoplegia/pupillary abnormalities. Intensity of symptoms variable

 

Synonyms
  • Alias: Myopathy, tubular aggregate
  • Alias: Tubular aggregate myopathy [TAM]
  • Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
  • Allelic: Congenital disorder of glycosylation, type Ii (ALG2)
  • Allelic: Congenital disorder of glycosylation, type Ij (DPAGT1)
  • Allelic: Immunodeficiency 10 (STIM1)
  • Allelic: Immunodeficiency 9 (ORAI1)
  • Allelic: Intellectual developmental disorder, epilepsy, behav. abnorm., coarse facies (ALG14)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14 (GMPPB)
  • Allelic: Myopathy, epilepsy + progressive cerebral atrophy (ALG14)
  • Allelic: Split-foot malformation with mesoaxial polydactyly (MAP3K20)
  • Allelic: Stormorken syndrome (STIM1)
  • Centronuclear myopathy 1 (DNM2)
  • Centronuclear myopathy 2 (BIN1)
  • Centronuclear myopathy 4 (CCDC78)
  • Centronuclear myopathy 5 (SPEG)
  • Centronuclear myopathy 6 + fiber-type disproportion (MAP3K20)
  • Centronuclear myopathy, AD, modifier of (MTMR14)
  • Lethal congenital contracture syndrome 5 (DNM2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain and eye anomalies, type A, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
  • Myasthenia, congenital, 12, with tubular aggregates (GFPT1)
  • Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
  • Myasthenic syndrome, congenital, 14, with tubular aggregates (ALG2)
  • Myasthenic syndrome, congenital, 15, [with]out tubular aggregates (ALG14)
  • Myasthenic syndrome, congenital, 22 (PREPL)
  • Myopathy, centronuclear, XL (MTM1)
  • Myopathy, tubular aggregate, 1 (STIM1)
  • Myopathy, tubular aggregate, 2 (ORAI1)
  • Myotonic dystrophy 1 (DMPK_CTG)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined