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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Congenital muscular dystrophy due to LMNA mutation

LMNA LMNA


COMMON
GENES
LMNA



Citations in the biomedical literature:


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA
Congenital muscular dystrophy due to LMNA mutation



Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Congenital muscular dystrophy due to LMNA mutation

Synonym(s):
(no synonyms)

Synonym(s):
- L-CMD
- LMNA-related congenital muscular dystrophy

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: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

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

Congenital muscular dystrophy due to LMNA mutation

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Anomalies of the neck
- Muscle weakness / flaccidity

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lordosis
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myopathy
- Psychic / psychomotor regression / dementia / intellectual decline
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Rigid spine

Occasional
- Ankle anomalies
- Cardiac rhythm disorder / arrhythmia
- Death in infancy
- Fetal immobility / abnormal fetal movements
- Heart / cardiac failure
- Hyperextensible joints / articular hyperlaxity
- Narrow rib cage / thorax
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

(no data available)