Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodvstrophy.
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0404.1995.tb00475.x/fullpdf
Reference26 articles.
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3. Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP;Asher;Ann NY Acad Sci,1991
4. Location of Usher syndrome type II to chromosome Iq;Kimberling;Genomics,1990
5. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness;Den Ouweland;Nat Genet,1992
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3. Diffuse leukoencephalopathy: Unusual sonographic finding in an infant with mitochondrial disease;Journal of Clinical Ultrasound;2007-06
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