Publication details
Unikátní případ kongenitální svalové dystrofie
| Title in English | A unique case of congenital muscular dystrophy |
|---|---|
| Authors | |
| Year of publication | 2004 |
| Type | Article in Periodical |
| Magazine / Source | Česko-slovenská patologie |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | congenital muscular dystrophy; juvenile polymyositis-FKRP-alpha-dystroglycan |
| Description | A case of congenital muscular dystrophy (CMD) simulating a juvenile polymyositis is presented. All known forms of CMD were excluded and the disorder was diagnosed as so far undescribed form of CMD with a mutation in a gene encoding the protein, that seems to play a role in a glycosylation of alpha-dystroglycan. |