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Congenital myopathies

DOID EFO MESH PheWeb

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

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FinnGen phenotype data

356077 individuals

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Apply sex-specific rule None

356077

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Check conditions None

356077

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Filter registries

Hospital Discharge: ICD-10 G71.2
Hospital discharge: ICD-9 3590A
Hospital discharge: ICD-8 $!$
Cause of death: ICD-10 G71.2
Cause of death: ICD-9 3590A
Cause of death: ICD-8 $!$

45

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Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10, 8, 9 ; C.O.D: 10, 8, 9

45

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Check minimum number of events None

45

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Include endpoints None

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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

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Key figures

All Female Male
Number of individuals 45 26 19
Unadjusted prevalence (%) 0.01 0.01 0.01
Mean age at first event (years) 41.22 36.48 47.72

Mortality

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

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: G6_CONMYOP – Congenital myopathies
GWS hits:

Survival analyses between endpoints

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Plot

before Congenital myopathies
after Congenital myopathies

loading spinner Loading survival analyses plot

Drugs most likely to be purchased after Congenital myopathies

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