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This is a non-core endpoint: only basic statistics are computed.

Congenital myopathies

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

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Apply sex-specific rule None

429209

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Check conditions None

429209

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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

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Check minimum number of events None

53

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Include endpoints None

53

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Remove individuals based on genotype QC

49

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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

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.