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

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FinnGen phenotype data

321302 individuals

Apply sex-specific rule None

321302

Check conditions None

321302

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 $!$

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

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

Check minimum number of events None

Include endpoints None

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

Similar endpoints

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List of similar endpoints to Congenital myopathies based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

None

Show all endpoint correlations

Summary Statistics

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Key figures

	All	Female	Male
Number of individuals	39	22	17
Unadjusted prevalence (%)	0.01	0.01	0.01
Mean age at first event (years)	41.30	35.78	48.45

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 survival analyses plot

Table

Loading survival analyses table

Drugs most likely to be purchased after Congenital myopathies

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