ISSN:
1435-232X
Keywords:
Key words mtDNA
;
MELAS genotype-phenotype correlation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract We report a patient who manifested a heterogeneous clinical presentation, including hypertrophic cardiomyopathy and hypothyroidism, with initially limited central nervous system involvement, and who harbored the mitochondrial (mt)DNA A3243G mutation. MtDNA analyses also revealed deleted genomes in muscle and blood. This atypical molecular combination may have influenced the clinical phenotype.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050025
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