FIGURE

Figure 4

ID

ZDB-FIG-250204-98

Publication

Falabella et al., 2024 - Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

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Figure 4

Cardiolipin content and acyl chain composition in patient-derived tissues. (A) The 72:8 cardiolipin (CL) molecular species in three healthy controls (CTRs) and Subject S1 (S1) skeletal muscle determined by mass spectrometry-based lipidome analysis. (B) Total cardiolipin levels measured in dry blood spots from 11 CTRs, Subjects S1 and S5. (C) Total cardiolipin abundance measured in primary fibroblasts from four CTRs, Subjects S1, S2 and S5. Error bars represent standard deviation; n = 3–8, where each data-point represents an independent biological sample.

Expression Data

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Antibody Labeling

Phenotype Data

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