Deutsch
IllnessMyopathy, tubular aggregated; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Myopathy, tubular aggregated, comprising 7 core candudate genes and altogether 15 curated genes according to the clinical signs
ID
MP9283
Number of genes
8
Accredited laboratory test
Examined sequence length
8,2 kb (Core-/Base-Genes)
11,4 kb (Extended panel)
11,4 kb (Extended panel)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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 and/or AR
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G72.88
Bioinformatics and clinical interpretation
No text defined