Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA

Neurology

Volumn 59, Issue 8, 2002, Pages 1197-1202

  Mancuso, M ^a,b   Salviati, L ^a,c   Sacconi, S ^a,d   Otaegui, D ^a   Camano P ^a   Marina, A ^a   Bacman, S ^e   Moraes, C T ^e   Carlo, J R ^f   Garcia, M ^f   Garcia Alvarez, M ^g   Monzon, L ^a   Naini, A B ^a   Hirano, M ^a   Bonilla, E ^a   Taratuto, A L ^g   DiMauro, S ^a   Vu, T H ^a,h  

^a College of Physicians and Surgeons ^*  (United States)

^b UNIVERSITY OF PISA   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^f Clinicas Las Americas   (Puerto Rico)

^g FLENI   (Argentina)

^h Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYGUANOSINE KINASE; DEOXYRIBONUCLEOTIDE; MITOCHONDRIAL DNA; THYMIDINE KINASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME METABOLISM; FEMALE; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; MOTOR NEURON DISEASE; MYOPATHY; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 0037159255     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000028689.93049.9A     Document Type: Article

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