Publication details
Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients
| Authors | |
|---|---|
| Year of publication | 2006 |
| Type | Article in Periodical |
| Magazine / Source | Muscle & Nerve |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | LGMD2A; muscle biopsy; mutational analysis; neurogenic pattern |
| Description | Histopathologic and molecular pathologic findings were examined in 14 LGMD2A patients. Analysis of the CAPN3 gene was performed at the mRNA level and/or DNA level. Immunoblot analysis revealed the deficiency of p94 in all genetically confirmed cases, and secondary dysferlin deficiency was demonstrated in 6 patients. In muscle tissues of two patients, a neurogenic pattern simulating neurogenic lesion was observed. |
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