Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease

Neuromuscular Disorders

Volumn 12, Issue 5, 2002, Pages 498-500

  Bruno, Claudio ^a   Lanzillo, Roberta ^b   Biedi, Claudia ^a   Iadicicco, Lucia ^b   Minetti, Carlo ^a   Santoro, Lucio ^b  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

McArdle's disease; Mutations; Myophosphorylase deficiency

Indexed keywords

ADULT; ALLELE; ARTICLE; CASE REPORT; CODON; ENZYME DEFICIENCY; ETHNOLOGY; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; ITALY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; STOP CODON;

CODON, NONSENSE; FEMALE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HETEROZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE;

EID: 0036262192     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00320-0     Document Type: Article

References (9)

1. Muscle glycogenoses
2. Debrancher enzyme: Neuromuscular disorder of 5 adults
3. A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease
4. Mutation analysis in myophosphorylase deficiency (McArdle's disease)
5. McArdle's disease: A nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all of the cases
6. Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy
7. Evolution of allosteric control in glycogen phosphorylase
8. A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease
9. Molecular genetic characterization of McArdle's disease in two large Finnish families