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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
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
1 OMIM reference -
1 associated gene
5 signs/symptoms
Autosomal dominant limb-girdle muscular dystrophy type 1B
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

LMNA
(UniProt - OMIM)
 PYGM
(UniProt - OMIM)

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


Citations in the biomedical literature:


Autosomal dominant limb-girdle muscular dystrophy type 1B
LMNA
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
PYGM



Autosomal dominant limb-girdle muscular dystrophy type 1B
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Synonym(s):
- LGMD1B
- Limb-girdle muscular dystrophy due to lamin A/C deficiency
Synonym(s):
- GSD due to muscle glycogen phosphorylase deficiency
- GSD type 5
- Glycogen storage disease type 5
- Glycogenosis due to muscle glycogen phosphorylase deficiency
- Glycogenosis type 5
- McArdle disease
- Myophosphorylase deficiency
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537276 / D006012
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance

Frequent
- Myopathy

Occasional
- Renal failure
- Structural anomalies of the cardio-circulatory system


Autosomal dominant limb-girdle muscular dystrophy type 1B

(no data available)