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Autosomal dominant limb-girdle muscular dystrophy type 1B
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Male infertility with normal virilization due to meiosis defect
4 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal dominant limb-girdle muscular dystrophy type 1B
Male infertility with normal virilization due to meiosis defect

LMNA
(UniProt - OMIM)
 CFTR
(UniProt - OMIM)
SOHLH1
(UniProt - OMIM)
SYCP3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
(0.63)
CFTR


Citations in the biomedical literature:


Autosomal dominant limb-girdle muscular dystrophy type 1B
LMNA
Male infertility with normal virilization due to meiosis defect
CFTR SOHLH1 SYCP3



Autosomal dominant limb-girdle muscular dystrophy type 1B
Male infertility with normal virilization due to meiosis defect

Synonym(s):
- LGMD1B
- Limb-girdle muscular dystrophy due to lamin A/C deficiency
Synonym(s):
- Azoospermia due to maturation arrest
- Azoospermia due to meiosis defect
- Male infertility with normal virilization due to maturation arrest
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.