Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case

Neuropathology

Volumn 30, Issue 6, 2010, Pages 606-614

  Wang, Zhaoxia ^a   Qi, Xiao Kun ^b   Yao, Sheng ^b   Chen, Bin ^a   Luan, Xinghua ^a   Zhang, Wei ^a   Han, Manfu ^c   Yuan, Yun ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b NAVY GENERAL HOSPITAL   (China)

^c SECOND PEOPLE S HOSPITAL OF SHENZHEN   (China)

Author keywords

M.13513G>A mutation; MELAS LS overlap syndrome; Mitochondrial DNA; MRI; Neuropathology

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOPSY; BASAL GANGLION; BRAIN INFARCTION; BRAIN REGION; BRAIN STEM; CLINICAL FEATURE; FEMALE; FRONTAL LOBE; GENE MUTATION; HUMAN; HUMAN TISSUE; LEIGH DISEASE; MALE; MELAS SYNDROME; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TEMPORAL LOBE;

ADOLESCENT; AUTOPSY; BRAIN; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; LEIGH DISEASE; MALE; MELAS SYNDROME; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 78649612716     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2010.01115.x     Document Type: Article

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