Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

Neurology

Volumn 50, Issue 1, 1998, Pages 296-298

  Bruno, C ^a   Minetti, C ^b   Shanske, S ^a   Morreale, G ^a   Bado, M ^b   Cordone, G ^b   Dimauro, S ^a  

^a New York Presbyterian Hospital Columbia University Medical Center   (United States)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

6 PHOSPHOFRUCTOKINASE; ADENOSINE MONOPHOSPHATE DEAMINASE; CYTOSINE; DNA; GUANINE; MYOGLOBIN;

ADOLESCENT; ARTICLE; CASE REPORT; CODON; ENZYME DEFECT; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE EXERCISE; MYALGIA; MYOGLOBINURIA; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0031906409     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.1.296     Document Type: Article

References (10)

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2. DiMauro S, Tsujino S. Nonlysosomal glycogenoses. In: Engel AG, Franzini-Armstrong C, eds. Myology. 2nd ed. New York: McGraw-Hill, 1994:1554-1576.
3. Sherman J, Raben N, Nicastri G, et al. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenosis VII-and their population frequency. Am J Hum Genet 1994;55:305-313.
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8. Tsujino S, Shanske S, Carrol JE, Sabina RL, DiMauro S. Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci. Neuromusc Disord 1995;4:263-266.
9. DiMauro S, Hartwig GB, Hays AP, et al. Débrancher deficiency: neuromuscular disorder in five adults. Ann Neurol 1979;5:422-436.
10. Tani K, Fujii H, Takegawa S, et al. Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. Am J Hematol 1983;14:165-174.