Publications by authors named "I Cimas"
Article Synopsis
- 4H leukodystrophy is an autosomal recessive disorder linked to hypomyelination and several endocrine issues, caused by mutations in genes like POLR3A and POLR3B.
- The study involved 150 patients and aimed to systematically assess their endocrine and growth abnormalities while exploring potential genotype/phenotype links.
- Findings revealed that delayed puberty and short stature are common in these patients, highlighting a need for more thorough investigation of endocrine problems in this group.
We report 2 isolated cases of slowly progressive muscle weakness in which tubular aggregates in muscle biopsy were found as the major pathological feature. Tubular aggregates were present in both types of fibers. Electron microscopy revealed the accumulation of double-walled tubular structures in dense subsarcolemmal locations or in smaller amounts within the myofibrils, close to cytoplasmic organelles.
View Article and Find Full Text PDFParaneoplastic opsoclonus associated with papillary renal cell carcinoma.
J Neurol Neurosurg Psychiatry
January 1998