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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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2015-04, Vol.25 (4), p.333-339
Main Authors: Scuderi, Carmela, Borgione, Eugenia, Castello, Filippa, Lo Giudice, Mariangela, Santa Paola, Sandro, Giambirtone, Mariaconcetta, Di Blasi, Francesco Domenico, Elia, Maurizio, Amato, Carmelo, Città, Santina, Gagliano, Catalda, Barbarino, Giuliano, Vitello, Girolamo Aurelio, Musumeci, Sebastiano Antonino
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
DNA Polymerase gamma
DNA-Directed DNA Polymerase - genetics
Family
Female
Gene mutation
Humans
Intellectual Disability - genetics
Intellectual Disability - physiopathology
Male
Mental retardation
Middle Aged
Mitochondrial disease
Mitochondrial Diseases - genetics
Mitochondrial Diseases - physiopathology
Neurology
Point Mutation
Polymerase gamma
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Description
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.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2015.01.004