j_bjmg-2023-0015_tab_001
| Diagnostics | Results |
|---|---|
| Creatine kinase | 13.69 μkat/l (reference range 0.72–7.9 μkat/l) |
| Karyotype | 46,XX Normal female karyotype |
| Plasma and urine amino acid concentration | Normal finding |
| Organic acids in urine | Normal finding |
| Genetic testing for SMA | Negative |
| TORCH | Normal finding |
| Echocardiography | Normal finding |
| MRI of the head | Volume reduction of brain parenchyma at the expense of white matter and corpus callosum and diffuse hyperintensity of supratentorial white matter periventricularly. |
| EMNG | The finding indicates myopathically altered pattern, slightly prolonged and polyphasic. Denervation potentials were not registered. Neurographic parameters are obtained as expected for age. |
| Muscle biopsy | Examination of muscle biopsy sample showed the presence of small, oval muscle fibers of abnormal size with accentuated interfascicular fibrous weft. Signs of necrosis and inflammation were not observed. The presence of centrally located nuclei and perinuclear halo was not observed. Neurofibrillary tangle with myelinated nerve fibers was clearly observed. Mitochondria were normal. Small groups of type 2 atrophic fibers was observed. |
| Psychologist | Gross delay of psychomotor development. |
| Genetic testing | Two heterozygous pathogenic genetic variants c.56572C>T (p.Arg18858Ter) and c.15218-2A>G in the TTN gene were detected. |