Title: | Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes |
Journal : | JIMD reports, 23 |
Authors: | Komulainen T, Author ; Hautakangas MR ; Hinttala R ; Pakanen S ; Vähäsarja V ; Lehenkari P ; Olsen P ; Vieira P ; Saarenpää-Heikkilä O ; Palmio J ; Tuominen H ; Kinnunen P ; Majamaa K ; Rantala H ; Uusimaa J |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 91 |
Languages: | English |
Keywords : | anatomopathology ; case studies ; children ; clinical presentation ; congenital muscular dystrophy with primary merosin deficiency ; Kearns-Sayre syndrome ; mitochondrial deletions ; mitochondrial DNA ; mitochondrial encephalomyopathy ; muscle biopsies ; Pearson syndrome ; phenotypes |
Pubmed / DOI : | DOI : 10.1007/8904_2015_438 / Pubmed : 25940035 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25940035 |