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A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene.
Aguilera I, García-Lozano JR, Bautista J, Campos Y, Arenas J, Núñez-Roldán A. Aguilera I, et al. Hum Mutat. 1999 Dec;14(6):545. doi: 10.1002/(SICI)1098-1004(199912)14:6<545::AID-HUMU18>3.0.CO;2-J. Hum Mutat. 1999. PMID: 10571957 No abstract available.
[The use of cardiopulmonary exercise test in patients with mitochondrial myopathies].
Fernández J, Montemayor T, Bautista J, Márquez R, Jiménez L, Arenas J, Campos Y, Castillo J. Fernández J, et al. Med Clin (Barc). 2000 Feb 5;114(4):121-7. doi: 10.1016/s0025-7753(00)71216-4. Med Clin (Barc). 2000. PMID: 10734620 Spanish.
Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. Garcia-Consuegra I, et al. Hum Genet. 2009 Apr;125(3):343. Hum Genet. 2009. PMID: 19320016 No abstract available.
Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. Garcia-Consuegra I, et al. Hum Genet. 2009 Apr;125(3):342. Hum Genet. 2009. PMID: 19320015 No abstract available.
Mutation analysis in 16 patients with mtDNA depletion.
Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J. Carrozzo R, et al. Hum Mutat. 2003 Apr;21(4):453-4. doi: 10.1002/humu.9135. Hum Mutat. 2003. PMID: 12655576
Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease.
Aguilera I, García-Lozano JR, Muñoz A, Arenas J, Campos Y, Chinchón I, Roldán AN, Bautista J. Aguilera I, et al. J Neurol Sci. 2001 Nov 15;192(1-2):81-4. doi: 10.1016/s0022-510x(01)00634-7. J Neurol Sci. 2001. PMID: 11701156
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. Martín MA, et al. Hum Mutat. 2000 Mar;15(3):294. doi: 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU13>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10679948
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