Mutations in the human d-sarcoglycan gene in familial and sporadic dilated cardiomyopathy -
S Tsubata, KR Bowles, M Vatta, C Zintz, J Titus, L … - Journal of Clinical Investigation, 2000 - pubmedcentral.nih.gov
... All affected individuals remained athletic until their onset ... to amplify across the
d-sarcoglycan gene. ... disrupted, consistent with a disease-causing mutation. ...
A mutation in the myostatin gene increases muscle mass and enhances racing performance in … -
DS Mosher, P Quignon, CD Bustamante, NB Sutter, CS … - PLoS Genet, 2007 - genetics.plosjournals.org
... mutations. This result is the first to quantitatively link a mutation in
the myostatin gene to athletic performance. Further, it ...
… of the variable length polythymidine tract in the cystic fibrosis(CFTR) gene: Association of the 5 … -
KJ Friedman, RA Heim, MR Knowles, LM Silverman - Human Mutation, 1997 - doi.wiley.com
... One was an athletic 35-year-old mother of a CF child ... Silverman LM, Boucher RC, Knowles
MR (1994) A novel mutation in the cystic fibrosis gene in patients ...
Super athletes or gene cheats? -
P McCrory - British Journal of Sports Medicine, 2003 - pt.wkhealth.com
... it from a naturally occurring gene mutation will not be ... The labelling of gene transfer
products with ... the Genetic Enhancement of Athletic Performance conference ...
Mutations in the caveolin-3 gene: When are they pathogenic? -
F de Paula, M Vainzof, ALF Bernardino, E McNally, … - American Journal of Medical Genetics, 2001 - doi.wiley.com
... the fact that the two siblings of the propositus who carry this change are very
strong and athletic suggests that ... Mutation in the CAV3 gene causes partial ...
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy -
SN Illarioshkin, IA Ivanova-Smolenskaya, CR … - Neurology, 2000 - AAN Enterprises
... characterized by normal motor milestones and good athletic prowess in ... I. Illa
Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical ...
… of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair … -
JC Rubio, MA Martin, M Rabadan, F Gomez-Gallego, … - Journal of Applied Physiology, 2005 - Am Physiological Soc
... eg, in human leukocyte antigen (HLA) gene frequencies (4 ... in homozygous with no C34T
mutation, although no ... to reach the status of elite athletic competition, the ...
Adult-onset MLD: A gene mutation with isolated polyneuropathy -
KJ Felice, MG Lira, M Natowicz, ML Grunnet, GJ … - Neurology, 2000 - AAN Enterprises
... leukodystrophy (MLD) due to a novel mutation in the arylsulfatase A (ASA) gene,
who presented ... The patient was a bright, athletic, and energetic young man ...
The long QT syndrome: Considerations in the athletic population -
E Schulze-Bahr, G M?nnig, L Eckardt, H Wedekind, … - Current Sports Medicine Reports, 2003 - Springer
... QT Syndrome: Considerations in the Athletic Population ? Schulze ... majority of LQTS
patients mutations in cardiac ... in the cardiac sodiumchannel gene (LQT3) canbe ...
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis -
D Thyagarajan, S Shanske, M Vazquez-Memije, D … - Annals of Neurology, 1995 - doi.wiley.com
... A 7-year-old sister walked at 10 months, is athletic and an excellent student. ...
missense nucleotide 9,176 T -+ C ATPase 6 gene mutation. ...
Source: Google Scholar |