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4. Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease. Martín MA; Rubio JC; Campos Y; Vílchez J; Cabello A; Arenas J Hum Mutat; 2000 Mar; 15(3):294. PubMed ID: 10679948 [TBL] [Abstract][Full Text] [Related]
5. Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation. Aquaron R; Bergé-Lefranc JL; Pellissier JF; Montfort MF; Mayan M; Figarella-Branger D; Coquet M; Serratrice G; Pouget J Neuromuscul Disord; 2007 Mar; 17(3):235-41. PubMed ID: 17324573 [TBL] [Abstract][Full Text] [Related]
6. A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. Rubio JC; Garcia-Consuegra I; Nogales-Gadea G; Blazquez A; Cabello A; Lucia A; Andreu AL; Arenas J; Martin MA Hum Mutat; 2007 Feb; 28(2):203-4. PubMed ID: 17221871 [TBL] [Abstract][Full Text] [Related]
7. Two novel mutations in the myophosphorylase gene in a patient with McArdle disease. Deschauer M; Hertel K; Zierz S Muscle Nerve; 2003 Jan; 27(1):105-7. PubMed ID: 12508303 [TBL] [Abstract][Full Text] [Related]
8. An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). Tsujino S; Rubin LA; Shanske S; DiMauro S Hum Mutat; 1994; 4(1):73-5. PubMed ID: 7951262 [No Abstract] [Full Text] [Related]
9. Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease. Gámez J; Rubio JC; Martín MA; Fernández-Cadenas I; Garcia-Arumi E; Andreu AL; Arenas J Muscle Nerve; 2003 Sep; 28(3):380-2. PubMed ID: 12929201 [TBL] [Abstract][Full Text] [Related]
10. [Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent]. Fernandez-Cadenas I; Nogales-Gadea G; Llige D; Rubio JC; Montaner J; Arenas J; Raspall-Chaure M; Roig-Quilis M; Andreu AL Rev Neurol; 2007 Sep 1-15; 45(5):280-3. PubMed ID: 17876739 [TBL] [Abstract][Full Text] [Related]
11. McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient. Rubio JC; Martín MA; García A; Campos Y; Cabello A; Culebras JM; Arenas J Neuromuscul Disord; 1999 May; 9(3):174-5. PubMed ID: 10382912 [TBL] [Abstract][Full Text] [Related]
12. A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease. Martín MA; Rubio JC; Campos Y; Ricoy JR; Cabello A; Arenas J Neuromuscul Disord; 2000 Aug; 10(6):447-9. PubMed ID: 10899452 [TBL] [Abstract][Full Text] [Related]
13. Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families. Hadjigeorgiou GM; Sadeh M; Musumeci O; Dabby R; De Girolami L; Naini A; Papadimitriou A; Shanske S; DiMauro S Neuromuscul Disord; 2002 Nov; 12(9):824-7. PubMed ID: 12398832 [TBL] [Abstract][Full Text] [Related]
14. Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. Aoyama Y; Ozer I; Demirkol M; Ebara T; Murase T; Podskarbi T; Shin YS; Gokcay G; Okubo M J Hum Genet; 2009 Nov; 54(11):681-6. PubMed ID: 19834502 [TBL] [Abstract][Full Text] [Related]
15. A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease. Hadjigeorgiou GM; Papadimitriou A; Musumeci O; Paterakis K; Flabouriari K; Shanske S; DiMauro S J Neurol Sci; 2002 Feb; 194(1):83-6. PubMed ID: 11809171 [TBL] [Abstract][Full Text] [Related]
16. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations. Vieitez I; Teijeira S; Fernandez JM; San Millan B; Miranda S; Ortolano S; Louis S; Laforet P; Navarro C Neuromuscul Disord; 2011 Dec; 21(12):817-23. PubMed ID: 21802952 [TBL] [Abstract][Full Text] [Related]
17. Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. Bruno C; Lanzillo R; Biedi C; Iadicicco L; Minetti C; Santoro L Neuromuscul Disord; 2002 Jun; 12(5):498-500. PubMed ID: 12031624 [TBL] [Abstract][Full Text] [Related]
18. A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease. Deschauer M; Opalka JR; Lindner A; Zierz S Mol Genet Metab; 2001 Dec; 74(4):489-91. PubMed ID: 11749054 [TBL] [Abstract][Full Text] [Related]
19. Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency. Okada H; Takagi A; Murate T; Adachi T; Yamamoto K; Matsushita T; Takamatsu J; Sugita K; Sugimoto M; Yoshioka A; Yamazaki T; Saito H; Kojima T Br J Haematol; 2004 Jul; 126(2):219-25. PubMed ID: 15238143 [TBL] [Abstract][Full Text] [Related]
20. Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease. Martín MA; Rubio JC; Wevers RA; Van Engelen BG; Steenbergen GC; Van Diggelen OP; De Visser M; De Die-Smulders C; Blázquez A; Andreu AL; Arenas J Ann Hum Genet; 2004 Jan; 68(Pt 1):17-22. PubMed ID: 14748827 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]