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Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation
Author(s) -
O'Rourke Killian,
Buddles Mark R.,
Farrell Michael,
Howley Rachel,
Sukuraman Sunita,
Connolly Sean,
Turnbull Douglass M.,
Hutchinson Michael,
Taylor Robert W.
Publication year - 2009
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21342
Subject(s) - point mutation , mutation , mitochondrial myopathy , mitochondrial dna , genetics , short stature , myopathy , biology , phenotype , mitochondrial disease , gene , endocrinology
We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA Lys ( MTTK ) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de novo and was not maternally inherited. This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic. Muscle Nerve, 2009