POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease

Archives of Neurology

Volumn 65, Issue 1, 2008, Pages 133-136

  Harrower, Timothy ^a   Stewart, Joanna D ^b   Hudson, Gavin ^b   Houlden, Henry ^d   Warner, Graham ^e   O'Donovan, Dominic G ^a   Findlay, Leslie J ^a   Taylor, Robert W ^b,c   De Silva, Rajith ^a   Chinnery, Patrick F ^b,c  

^a QUEEN S HOSPITAL   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^e ROYAL SURREY COUNTY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUSCLE BIOPSY; PRIORITY JOURNAL; TREMOR;

ADULT; AMINO ACID SUBSTITUTION; AXONS; CHARCOT-MARIE-TOOTH DISEASE; CYTOGENETIC ANALYSIS; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; ELECTRON TRANSPORT COMPLEX IV; FAMILY; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUSCLE FIBERS; MUSCLE, SKELETAL; MUTATION; NEUROLOGIC EXAMINATION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; SPINOCEREBELLAR DEGENERATIONS;

EID: 38349073477     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2007.4     Document Type: Article

References (12)

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