{
  "url": "https://dantelabs.com/traits/myotonia",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "myotonia",
    "id": "HP:0002486",
    "name": "Myotonia",
    "definition": "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.",
    "synonyms": [
      "Delayed relaxation of muscle fibers after contraction",
      "Delayed relaxation of muscle fibres after contraction"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-muscle-physiology",
        "name": "Issue with muscle function",
        "url": "https://dantelabs.com/traits/abnormal-muscle-physiology"
      }
    ],
    "narrower": [
      {
        "slug": "handgrip-myotonia",
        "name": "Handgrip myotonia",
        "genes": 6,
        "url": "https://dantelabs.com/traits/handgrip-myotonia"
      },
      {
        "slug": "percussion-myotonia",
        "name": "Percussion myotonia",
        "genes": 6,
        "url": "https://dantelabs.com/traits/percussion-myotonia"
      },
      {
        "slug": "emg-myotonic-runs",
        "name": "EMG: myotonic runs",
        "genes": 3,
        "url": "https://dantelabs.com/traits/emg-myotonic-runs"
      },
      {
        "slug": "myotonia-with-warm-up-phenomenon",
        "name": "Myotonia with warm-up phenomenon",
        "genes": 2,
        "url": "https://dantelabs.com/traits/myotonia-with-warm-up-phenomenon"
      },
      {
        "slug": "cold-sensitive-myotonia",
        "name": "Cold-sensitive myotonia",
        "genes": 1,
        "url": "https://dantelabs.com/traits/cold-sensitive-myotonia"
      },
      {
        "slug": "myotonia-of-the-face",
        "name": "Myotonia of the face",
        "genes": 1,
        "url": "https://dantelabs.com/traits/myotonia-of-the-face"
      },
      {
        "slug": "myotonia-of-the-jaw",
        "name": "Myotonia of the jaw",
        "genes": 1,
        "url": "https://dantelabs.com/traits/myotonia-of-the-jaw"
      },
      {
        "slug": "myotonia-of-the-lower-limb",
        "name": "Myotonia of the lower limb",
        "genes": 1,
        "url": "https://dantelabs.com/traits/myotonia-of-the-lower-limb"
      },
      {
        "slug": "myotonia-of-the-upper-limb",
        "name": "Myotonia of the upper limb",
        "genes": 1,
        "url": "https://dantelabs.com/traits/myotonia-of-the-upper-limb"
      },
      {
        "slug": "paradoxical-myotonia",
        "name": "Paradoxical myotonia",
        "genes": 1,
        "url": "https://dantelabs.com/traits/paradoxical-myotonia"
      }
    ],
    "genes": [
      {
        "slug": "clcn1",
        "symbol": "CLCN1",
        "hgnc": "HGNC:2019",
        "name": "chloride voltage-gated channel 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/clcn1"
      },
      {
        "slug": "scn4a",
        "symbol": "SCN4A",
        "hgnc": "HGNC:10591",
        "name": "sodium voltage-gated channel alpha subunit 4",
        "frequency": "obligate",
        "diseases": 8,
        "url": "https://dantelabs.com/genes/scn4a"
      },
      {
        "slug": "cnbp",
        "symbol": "CNBP",
        "hgnc": "HGNC:13164",
        "name": "CCHC-type zinc finger nucleic acid binding protein",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cnbp"
      },
      {
        "slug": "emd",
        "symbol": "EMD",
        "hgnc": "HGNC:3331",
        "name": "emerin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/emd"
      },
      {
        "slug": "fhl1",
        "symbol": "FHL1",
        "hgnc": "HGNC:3702",
        "name": "four and a half LIM domains 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fhl1"
      },
      {
        "slug": "hint1",
        "symbol": "HINT1",
        "hgnc": "HGNC:4912",
        "name": "histidine triad nucleotide binding protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hint1"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "pfkm",
        "symbol": "PFKM",
        "hgnc": "HGNC:8877",
        "name": "phosphofructokinase, muscle",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pfkm"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      },
      {
        "slug": "syne2",
        "symbol": "SYNE2",
        "hgnc": "HGNC:17084",
        "name": "spectrin repeat containing nuclear envelope protein 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne2"
      },
      {
        "slug": "tmem43",
        "symbol": "TMEM43",
        "hgnc": "HGNC:28472",
        "name": "transmembrane protein 43",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem43"
      },
      {
        "slug": "dmpk",
        "symbol": "DMPK",
        "hgnc": "HGNC:2933",
        "name": "DM1 protein kinase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dmpk"
      },
      {
        "slug": "uchl1",
        "symbol": "UCHL1",
        "hgnc": "HGNC:12513",
        "name": "ubiquitin C-terminal hydrolase L1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uchl1"
      },
      {
        "slug": "kcna1",
        "symbol": "KCNA1",
        "hgnc": "HGNC:6218",
        "name": "potassium voltage-gated channel subfamily A member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcna1"
      },
      {
        "slug": "tti2",
        "symbol": "TTI2",
        "hgnc": "HGNC:26262",
        "name": "TELO2 interacting protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tti2"
      },
      {
        "slug": "vapb",
        "symbol": "VAPB",
        "hgnc": "HGNC:12649",
        "name": "VAMP associated protein B and C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vapb"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "hgnc": "HGNC:1388",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1a"
      },
      {
        "slug": "cacna1s",
        "symbol": "CACNA1S",
        "hgnc": "HGNC:1397",
        "name": "calcium voltage-gated channel subunit alpha1 S",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cacna1s"
      },
      {
        "slug": "gabra3",
        "symbol": "GABRA3",
        "hgnc": "HGNC:4077",
        "name": "gamma-aminobutyric acid type A receptor subunit alpha3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabra3"
      },
      {
        "slug": "kcne3",
        "symbol": "KCNE3",
        "hgnc": "HGNC:6243",
        "name": "potassium voltage-gated channel subfamily E regulatory subunit 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcne3"
      },
      {
        "slug": "kcnj18",
        "symbol": "KCNJ18",
        "hgnc": "HGNC:39080",
        "name": "potassium inwardly rectifying channel subfamily J member 18",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj18"
      },
      {
        "slug": "lifr",
        "symbol": "LIFR",
        "hgnc": "HGNC:6597",
        "name": "LIF receptor subunit alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lifr"
      },
      {
        "slug": "vma21",
        "symbol": "VMA21",
        "hgnc": "HGNC:22082",
        "name": "vacuolar ATPase assembly factor VMA21",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vma21"
      }
    ]
  }
}