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2 patient data entries in database for mutation R1187W. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 431 | | R1187W1
| Hepatic failure, myopathy, psychomotor delay. 14-year-old boy born of healthy consanguineous parents. He presented delayed psychomotor development and mus- cular weakness associated with hepatopathy. He had recurrent episodes of cholestasis and cytolysis and liver biopsy showed fibrosis and severe steatosis. He was heterozygous for the p.Arg1187Trp mutation, previously identified in a patient with mitochondrial depletion syndrome and T-cell immunodeficiency. | | | 14 | n/a | n/a | Rouzier et al, 2013; [view data] | | 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 | |
| | 0.01 | n/a | 1.33 | Reichenbach et al, 2006; [view data] |
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. Number of displayed patient cases: 2
Avg age of onset in displayed cases: 7.0
Std dev in onset in displayed cases: 7.0
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