Proximal Myopathy With Focal Depletion Of Mitochondria
Genes related to Proximal Myopathy With Focal Depletion Of Mitochondria
- CHKB
Clinical Features
Phenotypes and symptoms related to Proximal Myopathy With Focal Depletion Of Mitochondria
- Myopathy
- Elevated serum creatine phosphokinase
- Proximal muscle weakness
- Myalgia
- Exercise-induced myalgia
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Proximal Myopathy With Focal Depletion Of Mitochondria Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
TCAP, RXYLT1, B4GAT1, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, POMGNT2, B3GALNT2, DNM2, DPM2, FKTN, FHL1, ISPD, ITGA7, LAMA2 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
Neuromuscular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)
View the complete list with 124 more genes
Specificity
1 %
Genes
100 % |
Congenital Muscular Dystrophy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RYR1, TCAP, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM3, FKTN, ISPD, ITGA7, LAMA2, LARGE1, LMNA, POMT1
Specificity
5 %
Genes
100 % |
Neuromuscular Disorders Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)
View the complete list with 91 more genes
Specificity
1 %
Genes
100 % |
Congenital Muscular Dystrophy Deletion/Duplication Analysis.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, RXYLT1, SELENON, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, TRAPPC11, POMGNT2, POMK, DAG1, B3GALNT2, DPM2, DPM3, FKTN, ISPD , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
Congenital Muscular Dystrophy Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, RXYLT1, SELENON, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, TRAPPC11, POMGNT2, POMK, DAG1, B3GALNT2, DPM1, DPM2, DPM3, FKTN , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
Congenital Myopathy Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
Congenital Myopathy Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
You can get up to 27 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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