This is a non-core endpoint: only basic statistics are computed.
Congenital myopathies
DOID EFO MESH Endpoint Browser
G6_CONMYOP
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
↥
FinnGen phenotype data
429209 individuals
Apply sex-specific rule None
429209
Check conditions None
429209
Check pre-conditions, main-only, mode, registry filters
Hospital Discharge: ICD-10
G71.2
Hospital discharge: ICD-9
3590A
Cause of death: ICD-10
G71.2
Cause of death: ICD-9
3590A
2 out of 7 registries used, show all original rules.
53
Check minimum number of events None
53
Include endpoints None
53
Remove individuals based on genotype QC
49
G6_CONMYOP
Control definitions
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
Show upset plot detailing case counts by codes
Or the full data table
Similar endpoints
↥List of similar endpoints to
Congenital myopathies
based on the number of shared cases.
Broader endpoints:
- Diseases of the myoneural junction and muscle
- Neurological diseases
- Neurological diseases
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Narrower endpoints:
None
Summary Statistics
↥Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 49 | 25 | 24 |
| Unadjusted prevalence (%) | 0.01 | 0.01 | 0.01 |
| Mean age at first event (years) | 43.28 | 38.12 | 48.65 |
Mortality
Not a core endpoint, no data to show.
Age distribution of first events
Year distribution of first events
Cumulative Incidence
Not a core endpoint, no data to show.
Correlations
↥
Index endpoint: G6_CONMYOP – Congenital myopathies
GWS hits:
Survival analyses between endpoints
↥Not a core endpoint, no data to show.
Drugs most likely to be purchased after Congenital myopathies
↥Endpoint not on priority list, no data to show.