Progeria classification: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
Line 13: | Line 13: | ||
| | | | ||
|'''Classification of Hutchinson-Gilford Progeria Syndrome''' | |'''Classification of Hutchinson-Gilford Progeria Syndrome''' | ||
| '''Cause''' | |||
|- | |- | ||
|Group 1 | |Group 1 | ||
|Classic Hutchinson-Gilford progeria syndrome | |Classic Hutchinson-Gilford progeria syndrome | ||
|Nucleotide substitution in the lamin A/C gene ''LMNA''(c.1824C>T [p.Gly608Gly]) | |||
|- | |- | ||
|Group 2 | |Group 2 | ||
|Atypical Hutchinson-Gilford progeria syndrome | |Atypical Hutchinson-Gilford progeria syndrome | ||
|Variety of pathogenic variants in intron 11 of the ''LMNA'' gene | |||
|} | |} | ||
Revision as of 15:03, 5 July 2019
Progeria Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Progeria classification On the Web |
American Roentgen Ray Society Images of Progeria classification |
Risk calculators and risk factors for Progeria classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Progeria may be classified according to genotype into two groups:Classic progeria and atypical progeria.
Classification
Progeria may be classified according to genotype into two groups:
Classification of Hutchinson-Gilford Progeria Syndrome | Cause | |
Group 1 | Classic Hutchinson-Gilford progeria syndrome | Nucleotide substitution in the lamin A/C gene LMNA(c.1824C>T [p.Gly608Gly]) |
Group 2 | Atypical Hutchinson-Gilford progeria syndrome | Variety of pathogenic variants in intron 11 of the LMNA gene |