Late-onset muscle weakness in partial phosphofructokinase deficiency: A unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation

Neurology

Volumn 46, Issue 5, 1996, Pages 1337-1342

  Sivakumar, Kumaraswamy ^a   Vasconcelos, Olavo ^a   Goldfarb, Lev ^a   Dalakas, Marinos C ^a,b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

6 PHOSPHOFRUCTOKINASE; MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; CASE REPORT; DNA DETERMINATION; ELECTRON MICROSCOPY; ENZYME DEFICIENCY; FEMALE; GLYCOLYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; JEW; MUSCLE BIOPSY; MUSCLE WEAKNESS; POINT MUTATION; PRIORITY JOURNAL;

EID: 0029974752     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.46.5.1337     Document Type: Article

References (23)

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