Genotype-phenotype correlations in hereditary muscle diseases. Implications for diagnosis and treatment.
Leshner
Robert T
RT
Department of Neurology, Virginia Commonwealth University Health System, Richmond, VA 23298-0599, USA. rleshner@hsc.vcu.edu
D003937:Diagnosis, Differential; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D005838:Genotype; D006801:Humans; D007797:Laminin / Q000172:deficiency; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics; D009223:Myotonic Dystrophy / Q000235:genetics; D010430:Pentosyltransferases; D010641:Phenotype; D011506:Proteins / Q000378:metabolism
D007797:Laminin; D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases