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A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

Publication: Journal Article

North, Yang, Wattanasirichaigoon, Mills, Easteal, and AH Beggs. 1999. “A Common Nonsense Mutation Results in Alpha-Actinin-3 Deficiency in the General Population.”. Nat Genet 21 (4): 353-4.

Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.

Publication: Journal Article

Duggal, Vesely, Wattanasirichaigoon, Villafane, Kaushik, and AH Beggs. 1998. “Mutation of the Gene for IsK Associated With Both Jervell and Lange-Nielsen and Romano-Ward Forms of Long-QT Syndrome.”. Circulation 97 (2): 142-6.

Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy.

Publication: Journal Article

Vainzof, Costa, Marie, Moreira, Reed, Passos-Bueno, AH Beggs, and Zatz. 1997. “Deficiency of Alpha-Actinin-3 (ACTN3) Occurs in Different Forms of Muscular Dystrophy.”. Neuropediatrics 28 (4): 223-8.

Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy.

Publication: Journal Article

Beggs, AH. 1997. “Dystrophinopathy, the Expanding Phenotype. Dystrophin Abnormalities in X-Linked Dilated Cardiomyopathy.”. Circulation 95 (10): 2344-7.

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

Publication: Journal Article

Engle, Goumnerov, McKeown, Schatz, Johns, Porter, and AH Beggs. 1997. “Oculomotor Nerve and Muscle Abnormalities in Congenital Fibrosis of the Extraocular Muscles.”. Ann Neurol 41 (3): 314-25.

Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy.

Publication: Journal Article

North, and AH Beggs. 1996. “Deficiency of a Skeletal Muscle Isoform of Alpha-Actinin (alpha-Actinin-3) in Merosin-Positive Congenital Muscular Dystrophy.”. Neuromuscul Disord 6 (4): 229-35.

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

Publication: Journal Article

Engle, Marondel, Houtman, Vries, Loewenstein, Lazar, Ward, Kucherlapati, and AH Beggs. 1995. “Congenital Fibrosis of the Extraocular Muscles (autosomal Dominant Congenital External Ophthalmoplegia): Genetic Homogeneity, Linkage Refinement, and Physical Mapping on Chromosome 12.”. Am J Hum Genet 57 (5): 1086-94.

Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily.

Publication: Journal Article

Azim, Knoll, AH Beggs, and Chishti. 1995. “Isoform Cloning, Actin Binding, and Chromosomal Localization of Human Erythroid Dematin, a Member of the Villin Superfamily.”. J Biol Chem 270 (29): 17407-13.

Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

Publication: Journal Article

Tahvanainen, AH Beggs, and Wallgren-Pettersson. 1994. “Exclusion of Two Candidate Loci for Autosomal Recessive Nemaline Myopathy.”. J Med Genet 31 (1): 79-80.

Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.

Publication: Journal Article

Specht, AH Beggs, Korf, Kunkel, and Shapiro. 1992. “Prediction of Dystrophin Phenotype by DNA Analysis in Duchenne/Becker Muscular Dystrophy.”. Pediatr Neurol 8 (6): 432-6.