Genetic muscle disorders (GMD) with structural abnormalities [133 genes]

We have called under the term “structural” those forms of muscle involvement that primarily alter the structure of the muscle fibers, causing their poor functioning.

In a first approach to these diseases, we have considered two main study groups based on the age at which symptoms appear:

  • Congenital structural muscle diseases (present from birth)
  • Structural muscle diseases of childhood and adulthood

For the broad approach to structural muscle diseases of genetic cause, including congenital forms and those with onset in childhood and adulthood, a general panel has been developed that includes 133 related genes.

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Genetic muscle disorders (GMD) with structural abnormalities

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Techniques: Exome, NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008646

Genetic muscle disorders (GMD) with structural abnormalities: View panel
  • ACTA1
  • ACTN2
  • ADSSL1
  • AGL
  • ANO5
  • B3GALNT2
  • B4GAT1
  • BAG3
  • BIN1
  • BVES
  • CACNA1H
  • CACNA1S
  • CAPN3
  • CAV3
  • CCDC78
  • CFL2
  • CHKB
  • CLN3
  • CNTN1
  • COL12A1
  • COL6A1
  • COL6A2
  • COL6A3
  • CRYAB
  • DAG1
  • DES
  • DMD
  • DNAJB6
  • DNM2
  • DOLK
  • DPM1
  • DPM2
  • DPM3
  • DYSF
  • EMD
  • FHL1
  • FKRP
  • FKTN
  • FLNC
  • FXR1
  • GAA
  • GBE1
  • GMPPB
  • GNE
  • GOSR2
  • HACD1
  • HNRNPA1
  • HNRNPA2B1
  • HNRNPDL
  • HRAS
  • HSPB1
  • HSPB8
  • INPP5K
  • ISPD
  • ITGA7
  • KBTBD13
  • KLHL40
  • KLHL41
  • KLHL9
  • KY
  • LAMA2
  • LAMP2
  • LARGE1
  • LDB3
  • LIMS2
  • LMNA
  • LMOD3
  • MAP3K20
  • MATR3
  • MB
  • MEGF10
  • MTM1
  • MYH2
  • MYH7
  • MYL1
  • MYL2
  • MYMK
  • MYO18B
  • MYOT
  • MYPN
  • NEB
  • ORAI1
  • PABPN1
  • PAX7
  • PHKA1
  • PLEC
  • PMM2
  • PNPLA2
  • POGLUT1
  • POMGNT1
  • POMGNT2
  • POMK
  • POMT1
  • POMT2
  • PTRH2
  • PYROXD1
  • RXYLT1
  • RYR1
  • RYR3
  • SCN4A
  • SELENON
  • SGCA
  • SGCB
  • SGCD
  • SGCG
  • SIL1
  • SMCHD1
  • SPEG
  • SPTBN4
  • SQSTM1
  • SRPK3
  • STAC3
  • STIM1
  • SYNE1
  • SYNE2
  • TCAP
  • TIA1
  • TMEM43
  • TNNT1
  • TNPO3
  • TOR1AIP1
  • TPM2
  • TPM3
  • TRAPPC11
  • TRIM32
  • TRIM54
  • TRIM63
  • TRIP4
  • TRPV4
  • TTN
  • VCP
  • VMA21
  • XK

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Genetic muscle disorders (GMD) [330 genes]

References

  • Darras BT, Menache-Stroninki CC, Hinton V, Kunkel LM. Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician’s Approach, 2nd ed, Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (Eds), Academic Press, San Diego 2015.
  • Emery AE. The muscular dystrophies. Lancet 2002; 359:687-95.
  • Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101:155-66.
  • Romero NB, Clarke NF. Congenital myopathies. Handb Clin Neurol 2013; 113:1321-26.
  • Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr Opin Neurol 2008; 21:569-75.
  • Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21:161-71.
  • Sharma MC, Jain D, Sarkar C, Goebel HH. Congenital myopathies–a comprehensive update of recent advancements. Acta Neurol Scand. 2009 May;119(5):281-92.
  • Wicklund MP. The muscular dystrophies. Continuum (Minneap Minn) 2013; 19:1535-70.