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The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
Highlights • We report a family that carried the T251I+P587L and the new P116Q mutation in POLG1 gene. • We describe a particular spectrum of clinical signs associated with these three mutations. • We do an extensive revision of literature data about the T251I+P587L mutations.
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Published in: | Neuromuscular disorders : NMD 2015-04, Vol.25 (4), p.333-339 |
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Main Authors: | , , , , , , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | Highlights • We report a family that carried the T251I+P587L and the new P116Q mutation in POLG1 gene. • We describe a particular spectrum of clinical signs associated with these three mutations. • We do an extensive revision of literature data about the T251I+P587L mutations. |
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ISSN: | 0960-8966 1873-2364 |
DOI: | 10.1016/j.nmd.2015.01.004 |