Limb girdle dystrophy 1C
| Classification according to ICD-10 | |
|---|---|
| G71.0 | Muscular dystrophy - pelvic or shoulder girdle shape |
| ICD-10 online (WHO version 2019) | |
The limb-1C (LGMD1C) is a very rare disease from the group of limb-girdle muscular dystrophy . It is caused by mutations in CAV3 gene (human chromosome 3, 3p25.3) causes and autosomal - dominant inherited. CAV3 codes for the protein caveolin-3 .
Clinically, the disease is characterized by mild to moderate proximal muscle weakness and muscle pain ( myalgia ). It is a pseudohypertrophy detectable of the calves, the Gowers' sign is positive and the creatine kinase in the serum is 4 to 25-fold increased. In the muscle biopsy , in addition to myopathic changes, a loss of caveolin-3 expression can be demonstrated immunohistochemically .
The course of the disease is benign. Life expectancy is not reduced.
Web links
- LGMD1C. In: Online Mendelian Inheritance in Man . (English)
Individual evidence
- ↑ Caveolin-3. In: Online Mendelian Inheritance in Man . (English)
- ↑ E. Gazzerro et al .: Caveolinopathies. In: Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 137.
