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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
12 signs/symptoms
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Juvenile amyotrophic lateral sclerosis

LMNA ALS2
FUS
SIGMAR1
SPG11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.49)
FUS



Citations in the biomedical literature:


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA
Juvenile amyotrophic lateral sclerosis
ALS2 FUS SIGMAR1 SPG11



Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Juvenile amyotrophic lateral sclerosis

Synonym(s):
(no synonyms)

Synonym(s):
- JALS
- Juvenile Charcot disease
- Juvenile Lou Gehrig disease

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references

Juvenile amyotrophic lateral sclerosis

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Autosomal recessive inheritance
- Elocution disorders / dysarthria / dysphonia
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Motor deficit / trouble
- Pyramidal syndrome

Frequent
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pseudobulbar signs / spasmodic laugh and cry

Occasional
- Bladder and ureter anomalies
- Sensitive trouble / deficit


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

(no data available)