Congenital Myopathy With Internal Nuclei And Atypical Cores

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

Genes related to Congenital Myopathy With Internal Nuclei And Atypical Cores

CCDC78

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Clinical Features

Phenotypes and symptoms related to Congenital Myopathy With Internal Nuclei And Atypical Cores

Generalized hypotonia
Muscle weakness
Cognitive impairment
Fatigue
Myopathy
Neonatal hypotonia
Myalgia
Falls
Centrally nucleated skeletal muscle fibers

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.

Alternative names

Congenital Myopathy With Internal Nuclei And Atypical Cores Is also known as cnm4, centronuclear myopathy type 4.

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.

Congenital Myopathy With Internal Nuclei And Atypical Cores Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Myopathy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...) View the complete list with 1 more genes Panel complete gene list RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7, NEB Specificity 5 % Genes 100 %
Muscular Dystrophy Advanced Evaluation. By Athena Diagnostics Inc (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...) View the complete list with 13 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, TMEM43, SMCHD1, DMD, DYSF, EMD, FKTN, FHL1, ISPD, LMNA, PLEC, POMT1, CAVIN1 Specificity 4 % 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 Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % 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 Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, FKRP, FKBP14, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, POMT2, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, CHST14, SIL1, TRAPPC11, ORAI1, POMK, DOK7, DAG1, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, DMD, MEGF10, DNM2, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, DYSF, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, HNRNPDL, HRAS, ITGA7, LAMA2, LAMB2, LAMP2, LARGE1, LMNA, LMOD3, LRP4, MTM1, MUSK, MYF6, MYH2, MYH7, MYL2, NEB, PLEC, BAG3, HACD1, PYGM, RAPSN Specificity 1 % 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 Panel complete gene list RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40, KBTBD13, HRAS, LMOD3, MTM1, MYF6, MYH7, NEB, HACD1 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 Panel complete gene list RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40, KBTBD13, HRAS, LMOD3, MTM1, MYF6, MYH7, NEB, HACD1 Specificity 4 % Genes 100 %
Centronuclear Myopathy Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, BIN1, CCDC78, SPEG, DNM2, MTM1, MYF6 Specificity 15 % Genes 100 %
Myopathy, centronuclear 4 (sequence analysis of CCDC78 gene). By CGC Genetics (Portugal). CCDC78 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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