Congenital myopathies

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
diagram bullet diagram downward connector

Filter registries Inpat., Oupat., Death

Hospital Discharge: ICD-10 G71.2
Hospital discharge: ICD-9 3590A
Cause of death: ICD-10 G71.2
Cause of death: ICD-9 3590A

Check pre-conditions None

Include endpoints None

Check conditions None

Apply sex-specific rule None

diagram downward connector G6_CONMYOP

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

Summary Statistics

Key figures

All Female Male
Number of individuals 27 16 11
Unadjusted prevalence (%) 0.01 0.01 0.01
Mean age at first event (years) 38.86 35.28 44.07

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 - - - -
15 years - - - -
5 years - - - -
1 year - - - -

Correlations

Index endpoint: G6_CONMYOP – Congenital myopathies
GWS hits:

Survival analyses between endpoints

Plot

before Congenital myopathies
after Congenital myopathies

loading spinner Loading survival analyses plot

Drugs most likely to be purchased after Congenital myopathies