SANDO: Two novel mutations in POLG1 gene

Neuromuscular Disorders

Volumn 16, Issue 8, 2006, Pages 507-509

  Gago, Miguel Fernandes ^a   Rosas, M J ^a   Guimarães, Joana ^a   Ferreira, Mariana ^a   Vilarinho, Laura ^a   Castro, Lígia ^a   Carpenter, Stirling ^a  

^a HOSPITAL DE SÃO JOÃO   (Portugal)

Author keywords

Dysarthria; Ophthalmoparesis; POLG1 gene; SANDO; Sensory ataxic neuropathy

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; ATAXIA; CASE REPORT; DYSARTHRIA; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL DNA DISORDER; MUSCLE BIOPSY; NERVE BIOPSY; OPHTHALMOPLEGIA; PERONEUS NERVE; POLG1 GENE; PRIORITY JOURNAL; SANDO SYNDROME; SENSORY NEUROPATHY;

ACETYLCARNITINE; ADULT; COENZYMES; DNA MUTATIONAL ANALYSIS; DNA-DIRECTED DNA POLYMERASE; DYSARTHRIA; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MALE; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTATION; OPHTHALMOPLEGIA; PERIPHERAL NERVES; SYNDROME; UBIQUINONE;

EID: 33748289552     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.05.016     Document Type: Article

References (10)

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