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Autosomal recessive limb-girdle muscular dystrophy type 2G
1 OMIM reference -
1 associated gene
26 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Spinocerebellar ataxia type 1
Myostatin-related muscle hypertrophy
Alveolar rhabdomyosarcoma
Anaplastic ependymoma
Autoimmune lymphoproliferative syndrome
Distal hereditary motor neuropathy type 2
Dyssegmental dysplasia, Silverman-Handmaker type
Glycogen storage disease due to muscle beta-enolase deficiency
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Isolated CoQ-cytochrome C reductase deficiency
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Pituitary stalk interruption syndrome
Schwartz-Jampel syndrome
Short stature - pituitary and cerebellar defects - small sella turcica
Synonym(s):
- LGMD2G
- Limb girdle muscular dystrophy due to telethonin deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TCAP O15273604488
No signs/symptoms info available.