central core myopathy: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
59 |
4. Check minimum number of eventsNone |
59 |
5. Include endpointsNone |
59 |
6. Filter based on genotype QC (FinnGen only) |
54 |
Control definitions (FinnGen only)
Control exclude
G6_MYONEU
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
G71
Name in latin
Myopathiae congenitae
Similar endpoints
↥List of similar endpoints to
Congenital myopathies
based on the number of shared cases.
Similar with more cases:
- Diseases of the myoneural junction and muscle
- Neurological diseases
- Neurological diseases
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 713 | 322 | 384 |
| Only index persons | 528 | 245 | 283 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 40.42 | 42.53 | 38.30 |
| Only index persons | 39.02 | 40.01 | 38.17 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 54 | 28 | 26 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 46.05 | 39.99 | 52.58 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
No data
Mortality – FinRegistry
↥Association
Association between endpoint G6_CONMYOP and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_CONMYOP | 5.957 [3.77, 9.41] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.315 |
During the follow-up period (1.1.1998 — 31.12.2019), 76 out of 239 females with G6_CONMYOP died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_CONMYOP | 4.163 [2.81, 6.18] | < 0.001 |
| Birth year | 0.984 [0.97, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 92 out of 270 males with G6_CONMYOP died.
Mortality risk
Mortality risk for people of age
years, who have G6_CONMYOP.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.533% | 0.783% |
| 5 | 3.124% | 4.309% |
| 10 | 8.428% | 10.688% |
| 15 | 15.743% | 19.355% |
| 20 | 26.652% | 31.473% |
Relationships between endpoints
↥Index endpoint: G6_CONMYOP – Congenital myopathies
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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