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613 Possible Causes for ARG894TER, CLCN1

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  • Angina Pectoris

    He is compound heterozygeous for a novel p.W303X and a frequent p.R894X CLCN1 mutation. CLCN1 exon number variation was excluded by MLPA.[ncbi.nlm.nih.gov] It is caused by markedly reduced function of the chloride channel encoded by CLCN1.[ncbi.nlm.nih.gov]

    Missing: ARG894TER
  • Myotonic Dystrophy

    The co-segregation of DM2 with a recessive CLCN1 mutation provided the explanation for the unusual clinical findings.[ncbi.nlm.nih.gov] Neurophysiology and genetic analysis for DM1, DM2, CLCN1 and SCN4A mutations were performed.[ncbi.nlm.nih.gov] However, defects in CLCN1 disrupt ion flow, Read More In muscle disease: Myotonic diseases Myotonic dystrophy is the most common of the myotonic disorders.[britannica.com]

    Missing: ARG894TER
  • Paroxysmal Kinesigenic Dyskinesia

    Our results also indicate that both the PRRT2 and CLCN1 genes need to be screened if we fail to identify PRRT2 mutations in PKD patients or CLCN1 mutations in MC patients.[ncbi.nlm.nih.gov] For those PRRT2- negative PKD cases, screening of SLC2A1 and CLCN1 genes are useful in confirming the diagnosis.[ncbi.nlm.nih.gov] Novel CLCN1 mutations in Taiwanese patients with myotonia congenita. J Neurol 2004, 251: 666–670.[link.springer.com]

    Missing: ARG894TER
  • Limbic Encephalitis

    All the affected members of a two-generation family presented myotonia and disclosed a pathogenic mutation in CLCN1.[ncbi.nlm.nih.gov] Additional evidence for a role of CLCN1 in the pathogenesis of epilepsy is derived from large-scale exome analysis of ion channel variants and expression studies.[ncbi.nlm.nih.gov] […] whereas a single case demonstrating an association between sporadic congenital myotonia and epilepsy was recently reported in a patient carrying a de novo mutation of the CLCN1[ncbi.nlm.nih.gov]

    Missing: ARG894TER
  • Myotonia Congenita

    Abstract We have performed genetic screening on the skeletal muscle chloride channel gene (CLCN1) in Taiwanese population.[ncbi.nlm.nih.gov] At least 50 different CLCN1 mutations have been described worldwide, but in many studies only about half of the patients showed mutations in CLCN1.[ncbi.nlm.nih.gov] Mutations in CLCN1, the gene encoding the ClC-1 chloride channel in skeletal muscle, lead to myotonia congenita.[ncbi.nlm.nih.gov]

    Missing: ARG894TER
  • Bethlem Myopathy

    Forms and Documents Test Details Genes: ACTA1, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHKB, CLCN1, CNTN1, COL12A1[genedx.com]

    Missing: ARG894TER
  • Multiple Congenital Anomalies

    -KCNJ2 Myotonia congenita, Thomsen’s disease, Becker’s disease, Andersen-Tawil syndrome CLCN1, KCNJ2 P356-Chromosome 22q Subtelomeric testing 22q11, 22q13 P358-Human Telomere[dssimage.com] P337-TSC2 Tuberous sclerosis TSC2 gene, 16p13.3 P339-SHANK3 Autism Spectrum Disorder SHANK3 22q13.33 P343-Autism-1 Autism 15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13 P350-CLCN1[dssimage.com]

    Missing: ARG894TER
  • Mexiletine

    […] neurophysiological test able to indirectly detect and quantify, through the measurement of TD, the clinical phenomenon of the transitory weakness that occurs in myotonic syndromes due to CLCN1[ncbi.nlm.nih.gov] In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet: EJHG. 2008;16(8):921–9.[bmcneurol.biomedcentral.com] […] of mexiletine treatment in Non-dystrophic myotonia (NDM) NDM is a heterogeneous group of monogenetic rare diseases caused by mutations in the skeletal muscle chloride ( CLCN1[bmcneurol.biomedcentral.com]

    Missing: ARG894TER
  • Nemaline Myopathy 2

    Dystrophy Panel Forms and Documents Test Details Genes: ACTA1, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHKB, CLCN1[genedx.com]

    Missing: ARG894TER
  • Nemaline Myopathy

    Dystrophy Panel Forms and Documents Test Details Genes: ACTA1, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHKB, CLCN1[genedx.com]

    Missing: ARG894TER

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