FIGURE

Figure 2

ID

ZDB-FIG-220324-17

Publication

Corral-Juan et al., 2022 - New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

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Figure 2

Moderate axonal sensory polyneuropathy predominantly in the lower limbs and abnormal SSR and R–R interval in affected patients III:7, IV:6 and IV:2, respectively. (A and B) Moderate axonal sensory polyneuropathy predominantly in the lower limbs in IV:2. At later stages of disease progression, patients revealed reduction of sensory nerve amplitudes also in upper limbs (Supplementary Fig. 4). Tibial nerve SSEPs showed an abnormal latency of P37 response in IV:2 (C) and III:7 (D). (E) Abnormal SSR in lower limbs displayed abnormality in two patients (IV:2 and IV:6). (G) Altered R–R interval in Patient IV:2.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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