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1 OMIM reference -
2 associated genes
6 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Roussy-Lévy syndrome
Distal myopathy with posterior leg and anterior hand involvement

MPZ FLNC
PMP22


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PMP22
(0.63)
FLNC



Citations in the biomedical literature:


Roussy-Lévy syndrome
MPZ PMP22
Distal myopathy with posterior leg and anterior hand involvement
FLNC



Roussy-Lévy syndrome
Distal myopathy with posterior leg and anterior hand involvement

Synonym(s):
- Hereditary areflexic dystasia, Roussy-Lévy type

Synonym(s):
- Distal ABD-filaminopathy

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Roussy-Lévy syndrome

Very frequent
- Abnormal gait
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Nerve conduction abnormality



Distal myopathy with posterior leg and anterior hand involvement

(no data available)