|
1 patient data entry collated from reference Reichenbach et al, 2006. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 528 | | R1187W1
| Mitochondrial depletion syndrome and T cell immunodeficiency. severe recurrent infectious diseases, anemia, and thrombocytopenia. Clinically, he presented with severe psychomotor retardation, axial hypotonia, and a disturbed pain perception leading to debilitating biting of the thumb, lower lip, and tongue. Brain imaging showed hypoplasia of corpus callosum and an impaired myelinization of the temporo- occipital region with consecutive supratentorial hydrocephalus. MtDNA depletion. Neurologic examination revealed adynamia, hypotonia of the trunk, complete absence of deep tendon reflexes as well as primitive reflexes, and a disturbed pain perception with complete absence of pain expression. axonal and demyelinating neuropathy. septicemia with maculopapular exanthema, paronychia, and conjunctivitis. | | - | demyelinating neuropathy | |
| | n/a | 0.01 | 1.33 |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
|