Adult-onset Mendelian PEO associated with mitochondrial disease

Journal of Neuromuscular Diseases

Volumn 1, Issue 2, 2014, Pages 119-133

  Sommerville, Ewen W ^a   Chinnery, Patrick F ^a   Gorman, Gráinne S ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Genotype; Mitochondria; Ophthalmoplegia; Phenotype

Indexed keywords

DEOXYGUANOSINE KINASE; THYMIDINE PHOSPHORYLASE;

AFG3L2 GENE; ATAXIA; C10ORF2 GENE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; DGUOK GENE; DNA2 GENE; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; MGME1 GENE; MITOCHONDRION; MPV17 GENE; OPA1 GENE; POLG GENE; POLG2 GENE; PRIORITY JOURNAL; PTOSIS; RECESSIVE INHERITANCE; REVIEW; RRM2B GENE; SLC25A4 GENE; SPG7 GENE; SYSTEMATIC REVIEW; TK2 GENE; TYMP GENE;

EID: 84992338725     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-140041     Document Type: Review

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