Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations

Neurology

Volumn 72, Issue 12, 2009, Pages 1103-1105

  Giordano, C ^a   Powell, H ^b   Leopizzi, M ^a   De Curtis, M ^a   Travaglini, C ^a   Sebastiani, M ^a   Gallo, P ^a   Taylor, R W ^c   D'Amati, G ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTESTINE PSEUDOOBSTRUCTION; LABORATORY DIAGNOSIS; MALE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NEWBORN; NEWBORN ASSESSMENT; POLYMERASE GAMMA GENE; PRIORITY JOURNAL; STRUCTURAL GENE;

EID: 67650366898     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000345002.47396.e1     Document Type: Article

References (6)

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