Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency

Neuromuscular Disorders

Volumn 7, Issue 2, 1997, Pages 81-83

  El Schahawi, M ^a   Bruno, C ^a   Tsujino, S ^a   Sarrazin, A M ^a   Shanske, S ^a   LeRoux, M G ^b   DiMauro, S ^a  

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

^b UNIVERSITÉ DE NANTES   (France)

Author keywords

McArdle's disease; Myophosphorylase deficiency; Sudden infant death syndrome

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; CAUSE OF DEATH; CODON; FEMALE; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; INFANT; MUSCLE; NONSENSE MUTATION; PRIORITY JOURNAL; SUDDEN INFANT DEATH SYNDROME;

ADULT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; INFANT; MALE; SUDDEN INFANT DEATH;

EID: 0030936525     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00424-0     Document Type: Article

References (18)

1. McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 1951;10:13-33.
2. Schmid R, Mahler R. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest 1959;38:2044-58.
3. Mommaerts WFHM, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K. A functional disorder of muscle associated with the absence of phosphorylase. Proc Natl Acad Sci USA 1959;45:791-7.
4. DiMauro S, Tsujino S. Nonlysosomal glycogenoses. In Engel AG, Franzini-Armstrong C, editors. Myology, 2nd ed. New York. McGraw-Hill, 1994;2:1554-76.
5. Engel WK, Eyerman EL, Williams HE. Late-onset type of skeletal-muscle phosphorylase deficiency. A new familial variety with completely and partial affected subjects. N Engl J Med 1963;268:135-7.
6. DiMauro S, Hartlage P. Fatal infantile form of muscle phosphorylase deficiency. Neurology 1978;28:1124-9.
7. Miranda A,F, Nette EG, Hartlage PL, DiMauro S. Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. Neurology 1979;29:1538-41.
8. De la Maza M, Patten BM, Williams C, Chambers JP. Myophosphorylase deficiency: a new cause of infantile hypotonia simulating infantile muscular atrophy. Neurology 1980;30-402.
9. Milstein JM, Herron TM, Haas JE. Fatal infantile phosphorylase deficiency. J Child Neurol 1989;4:186-8.
10. Coquet M, Bioulac-Sage P, Parrot-Roulaud F et al. Fatal neonatal form of muscle phosphorylase deficiency associated with liver failure due to complex IV. Deficiency of respiratory chain: a familial form. In Serratrice G, Pellisier JF, Pouget J, Blin O, Branger D, Turc F, Azulay JP, editors. Nervous system muscles and systemic diseases. Paris, Expansion Scientifique Française, 1993:348-55.
11. Tsujino S, Shanske S, DiMauro S. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 1993;329:241-5.
12. Kristiansson K, Tsujino S, DiMauro S. Myophosphorylse deficiency: an unusually severe form with myoglobinuria. J Pediatr 1994;125:409-10.
13. Cornelio F, Bresolin N, DiMauro S, Mora M, Balestrini MR. Congenital myopathy due to phosphorylase deficiency. Neurology 1983;33:1383-5.
14. Newgard CB, Littman DR, van Genderen C, Smith M, Fletterick RJ. Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes. J Biol Chem 1988;263:3850-7.
15. Tsujino S, Shanske S, Nonaka I, DiMauro S. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). Muscle Nerve 1995;(3):S23-S27.
16. 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;4:263-6.
17. Harpey J, Charpentier C, Paturneau-Jouas M. Sudden infant death syndrome and inherited disorders of beta-oxidation. Biol Neonate 1990;58:70-80.
18. Santorelli FM, Schlessel JS, Slonim AE, DiMauro S. A novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death. Pediatr Neurol 1996;15:145-9.