Limb girdle dystrophy 1G
| Classification according to ICD-10 | |
|---|---|
| G71.0 | Muscular dystrophy - pelvic or shoulder girdle shape |
| ICD-10 online (WHO version 2019) | |
The limb-1G (LGMD1G) is a very rare genetic disease from the group of limb-girdle muscular dystrophy , the autosomal - dominant inherited.
The disease has so far been described in 12 members of a Brazilian family. The causative gene was published in 2014. It is about HNRNPDL, a gene that codes for the RNA processing protein D-like heterogeneous nuclear ribonucleoprotein .
Clinical picture
The disease manifests itself in adulthood between the ages of 30 and 40. Clinically, the disease is characterized by progressive proximal muscle weakness . In addition, were flexion contractures of the fingers and toes described. The creatine kinase was mostly elevated in the members of the family.
Web links
- LGMD1G. In: Online Mendelian Inheritance in Man . (English)
- LGMD1G at Orphanet
Individual evidence
- ↑ a b LGMD1G. In: Online Mendelian Inheritance in Man . (English), last accessed on December 29, 2011
- ↑ A. Starling, F. Kok et al. a .: A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. In: European journal of human genetics Volume 12, Number 12, December 2004, pp. 1033-1040, ISSN 1018-4813 . doi : 10.1038 / sj.ejhg.5201289 . PMID 15367920 .
- ↑ NM Vieira, MS Naslavsky u. a .: A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). In: Human Molecular Genetics . [electronic publication before printing] March 2014, ISSN 1460-2083 . doi : 10.1093 / hmg / ddu127 . PMID 24647604 .
