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Custom Congenital Myopathy/Myotonia Panel

Custom Congenital Myopathy/Myotonia Panel

What is congenital myopathy/myotonia?

Congenital myopathy or myotonia is an inherited muscle related disease presenting at birth or in infancy. The common symptoms of myotonia include lack of muscle tone, delayed motor skills, drooping eyelids, muscle cramp, and so forth. There are seven types of myotonia, including nemaline myopathy, myotubular myopathy, centronuclear myopathy, central core disease, multi-minicore disease, congenital fiber-type disproportion and hyaline body myopathy. In the 1990s, ion channel defects were discovered at the root of several myopathies and defective filament proteins cause the most common myotonia, nemaline myopathy. There have been advances in defining genetic basis of most myotonia subtypes for the past decade. Many myotonias result from mutations in more than one gene; the same gene mutations can lead to different myopathies.

Disease-related gene description

There have been eight genes identified for the most common myotonia, nemaline myopathy, including α-skeletal actin (ACTA1); muscle-specific cofilin (CFL2); nebulin (NEB); slow troponin T (TNNT1); β-tropomyosin (TPM2), slow α-tropomyosin (TPM3), kelch-like family member 40 (KLHL40, also known as KBTBD5) and muscle-specific ubiquitin ligase (KBTBD13). The mutations in NEB are responsible for about 40~50% of nemaline myopathy cases and patients with NEB mutations often have autosomal recessive disease. Since the NEB gene is relatively large, no common mutations or mutations hotspots. In contrast, more than 90% alterations on a smaller gene ACTA1 are dominant missense mutations among ~20~25% of nemaline myopathy cases. Additionally, mutations in KBTBD13 have been identified to cause both nemaline and core-rod myopathy. As for central core disease, the dominant changes in the ryanodine receptor gene (RYR1) are found in most cases. About 60% RYR1 mutations in central core disease locate in the hotspots, uncertain variants are an important problem in RYR1 mutations. Except for genes mentioned above, many others have been identified for the cause of myotonias, including selenoprotein 1 (SEPN1), titin (TTN), dynamin 2 (DNM2), myotubularin (MTM1), Slow/β-cardiac myosin heavy chain (MYH7), etc.

To better understand the relationship between gene variants and different subtypes of myotonia, our platform provides targeted DNA sequencing by the Illumina MiSeq or Ion PGM system. A customizable comprehensive myotonia panel is offered to meet your requirements for research.

Custom Congenital Myopathies/Myotonia panel offers but not are limited to:

  • To detect low frequency myotonia variants, amplicon sequencing by Illumina MiSeq/Ion PGM system will be applied.
  • Customizable myotonia panel can meet your needs, increase throughput and save costs at the same time.
  • To ensure the validity of results, further validation will always be applied to every detected variant.
  • Strict quality control will guarantee the accuracy and repeatability of the sequencing.
  • You can choose the panel content from our comprehensive myotonia panel or design your own panel by discussing your custom myotonia requirements.

Choose the genes that suit you from the Congenital Myopathies/Myotonia gene list

ACTA1 BIN1 CACNA1S CCDC78 CFL2
CNTN1 COL12A1 COL6A1 COL6A2 COL6A3
DNM2 FKBP14 FLNC HACD1 KBTBD13
KHL40 KLHL40 KLHL41 LMOD3 MEGF10
MTM1 MYF6 MYH3 MYH7 MYH8
MYL1 MYO18B MYPN NEB PPA2
PYROXD1 RYR1 RYR3 SCN4A SELENON
SEPN1 SPEG STAC3 TNNT1 TNNT3
TNNTI2 TPM2 TPM3 TRDN TTN

Specimen requirements of our custom Congenital Myopathies/Myotonia panel

  • Specimen: whole blood, saliva, buccal or extracted DNA (not FFPE-compatible).
  • Volume: 8 mL whole blood, 2 mL saliva or min. 1 μg DNA.
  • Collection: blood is collected by routine blood collection and saliva is collected by spitting into the provided container. DNA samples are stored in TE buffer or equivalent.
  • Container: lavender-top (EDTA) tube or yellow-top (ACD) tube.

Gene panel workflow

Gene panel workflow

For more information about the Custom Congenital Myopathies/Myotonia Panel or need other amplification requirements, please contact us.

References:

  1. North K.N., et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014 February; 24(2): 97–116.
  2. Jungbluth H., et al. Current and future therapeutic approaches to the congenital myopathies. Seminars in Cell & Developmental Biology. Volume 64, April 2017, Pages 191-200.
  3. Ravenscroft G., et al. Recent advances in understanding congenital myopathies. F1000Research, 11 Dec 2018, 7(F1000 Faculty Rev):1921.
  4. Malandrini A., et al. CONGENITAL MYOPATHIES. JOURNAL OF THE SIENA ACADEMY OF SCIENCES, (2009) 1761 - VOL.1.
* For Research Use Only. Not for use in diagnostic procedures.

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