Gene/Protein
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Symptom
Drug
Enzyme
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Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
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Query: UMLS:C0027066 (
myoclonus
)
4,275
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report a patient with isolated familial hypomagnesaemia with hypocalciuria, a rare
congenital disorder
of magnesium metabolism. During adolescence the patient developed neurological and ophthalmological features not hitherto reported in this condition, including seizures,
myoclonus
, and retinal pigmentary degeneration. These suggested the phenotype of mitochondrial disease, which has been occasionally reported in association with hypomagnesaemia, but subsequent investigations of mitochondrial function were normal. The pathogenesis of this unusual neurological and ophthalmological syndrome therefore remains uncertain.
...
PMID:Isolated familial hypomagnesaemia with novel neurological features: causal link or chance concurrence? 1155 16
