Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients
| Authors | |
|---|---|
| Year of publication | 2005 |
| Type | Article in Proceedings |
| Conference | Neuromuscular disorders |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | LGMD2A; calpain3; RT-PCR |
| Description | Limb girdle muscular dystrophy type 2A (LGMD2A), the most prevalent recessive form of LGMD, is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the musclespecific proteolytic enzyme calpain-3 (p94). In 14 LGMD2A patients, analysis of the CAPN3 gene at both the mRNA level using reverse transcription-PCR and sequencing and at the DNA level using PCR and denaturing high performance liquid chromatography was performed. |
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