A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population-Reference-Cited by-同舟云学术

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A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population

Published:2002-08 Issue:6 Volume:12 Page:558-565
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Gross M,Rötzer E,Kölle P,Mortier W,Reichmann H,Goebel H.H,Lochmüller H,Pongratz D,Mahnke-Zizelman D.K,Sabina R.L

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference30 articles.

1. Molecular basis of AMP deaminase deficiency in skeletal muscle;Morisaki;Proc Natl Acad Sci USA,1992

2. deaminase deficiency in 2% of a healthy population;Norman;Muscle Nerve,1995

3. Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency;Gross;J Inher Metab Dis,1997

4. Genetic characteristics of myoadenylate deaminase deficiency;Verzijl;Ann Neurol,1998

5. Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle;Norman;J Appl Physiol,1998

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