A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy

Journal of Neurology

Volumn 253, Issue 7, 2006, Pages 869-874

  Santoro, L ^a   Manganelli, F ^a   Lanzillo, R ^a   Tessa, A ^b   Barbieri, F ^a   Pierelli, F ^c,d   Di Giacinto, G ^b   Nigro, V ^e   Santorelli, F M ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d IRCCS NEUROMED   (Italy)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Mitochondrial disorders; Neuropathy; PEO; POLG1

Indexed keywords

DNA POLYMERASE; MITOCHONDRIAL DNA; MITOCHONDRIAL DNA POLYMERASE; PROTEIN; PROTEIN GDAP1; PROTEIN GJB1; PROTEIN LMNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; DEMYELINATING DISEASE; DISEASE SEVERITY; ELECTRONEUROLOGY; GENE DELETION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MYELINATION; NERVE BIOPSY; NERVE FIBER DEGENERATION; NUCLEOTIDE SEQUENCE; PERONEUS MUSCLE; PRIORITY JOURNAL; RELATIVE; SURAL NERVE;

ADULT; AXONS; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENETIC TESTING; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HOMOZYGOTE; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE; POLYRADICULONEUROPATHY;

EID: 33746239182     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0082-6     Document Type: Article

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