Genomes and Genes
Katherine D Mathews
Affiliation: University of Iowa
- Limb-girdle muscular dystrophyKatherine D Mathews
Departments of Pediatrics and Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
Curr Neurol Neurosci Rep 3:78-85. 2003..For example, LGMD 2H appears to be due to mutations affecting the ubiquitin-proteasome pathway. A diagnostic approach is outlined based on clinical features, genetics, and commercially available testing...
- Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophyKatherine D Mathews
Department of Pediatrics, Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA
J Child Neurol 25:1098-102. 2010..These data reflect a change in diagnostic testing, as case assignment based on genetic testing increased from 67% in the oldest cohort (born 1982-1987) to 94% in the cohort born 2004 to 2009...
- Muscular dystrophy overview: genetics and diagnosisKatherine D Mathews
Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52240, USA
Neurol Clin 21:795-816. 2003..These diagnostic advances accompany improved understanding of pathophysiology and pave the way for specific and curative treatments...
- Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophyChristopher Cunniff
Department of Pediatrics, Steele Research Center, University of Arizona College of Medicine, 1501 N Campbell Avenue, Tucson, Arizona 85724 5073, USA
J Child Neurol 24:425-30. 2009..7% of all patients and 10.4% with a DMD mutation). Point mutation analysis was performed in only 37 of 130 (28.5%) individuals with negative deletion and/or duplication testing...
- Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophySarah K Nabukera
Department of Epidemiology, The University of Iowa, Iowa City, IA, USA
Am J Med Genet A 161:70-5. 2013..These results suggest that about one in five mothers deliver a live birth subsequent to DBMD diagnosis in a male child. Maternal age and race/ethnicity were associated with this reproductive choice...
- Prevalence of Duchenne and Becker muscular dystrophies in the United StatesPaul A Romitti
The University of Iowa, Iowa City, Iowa
Pediatrics 135:513-21. 2015..To estimate prevalence of childhood-onset Duchenne and Becker muscular dystrophies (DBMD) in 6 sites in the United States by race/ethnicity and phenotype (Duchenne muscular dystrophy [DMD] or Becker muscular dystrophy [BMD])...
- Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severitySusannah Q Longmuir
Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
J AAPOS 14:240-3. 2010..Exudative retinal detachment, retinal vessel irregularities on fluorescein angiography, and retinal vessel tortuosity have been found in association with FSHD...
- Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophySarah K Nabukera
Department of Epidemiology, The University of Iowa, Iowa City, IA 52242 5000, USA
J Child Neurol 27:734-40. 2012..These findings have implications for developing clinical care protocols and monitoring possible interactions between complementary and alternative medicine and conventional medical therapies...
- Limb-girdle muscular dystrophiesFederica Piccolo
Department of Physiology and Biophysics and Department of Neurology, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
Adv Neurol 88:273-91. 2002
- Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathyRobert M Weiss
University of Iowa Hospitals and Clinics, Division of Cardiovascular Medicine, Department of Internal Medicine, 200 Hawkins Drive, Room E317 1 GH, Iowa City, IA 52242, USA
J Am Soc Echocardiogr 23:848-53. 2010..Female "carriers" also can develop overt disease. The purpose of this study was to ascertain the prevalence of cardiac contractile abnormalities in dystrophinopathy carriers...
- Limb-girdle muscular dystrophy in the United StatesSteven A Moore
University of Iowa, Iowa City, 52242, USA
J Neuropathol Exp Neurol 65:995-1003. 2006..The most common LGMDs in the United States are calpainopathies, dysferlinopathies, sarcoglycanopathies, and dystroglycanopathies...
- GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype CorrelationBraden S Jensen
Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa
Hum Mutat 36:1159-63. 2015..860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development. Sixty-six percent of GMPPB families to date have one of these common variants. ..
- Neurobehavioral Concerns Among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research NetworkKristin Caspers Conway
Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA Departments of Pediatrics and Neurology, Carver College of Medicine, The University of Iowa, Iowa City, IA National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA Department of Physical Medicine and Rehabilitation, University of Colorado School of Medicine and Children s Hospital Colorado, Denver, CO Department of Biostatistics, College of Public Health, Fairbanks School of Public Health and School of Medicine, Indiana University, Indianapolis, IN
J Dev Behav Pediatr 36:455-63. 2015..To describe the occurrence of selected neurobehavioral concerns among males with a dystrophinopathy and to explore the associations with corticosteroid or supportive device use...
- Genitourinary health in a population-based cohort of males with Duchenne and Becker Muscular dystrophiesYong Zhu
Department of Epidemiology, The University of Iowa, S416 CPHB, 145 North Riverside Drive, Iowa City, Iowa, 52242, USA
Muscle Nerve 52:22-7. 2015..Genitourinary (GU) health among patients with Duchenne and Becker muscular dystrophies (DBMD) has not been explored using population-based data...
- Urologic and gastrointestinal symptoms in the dystroglycanopathiesCameron D Crockett
From the Departments of Pediatrics C D C, C S C, R M R, K D M, Urology L A B, C S C, Pathology S A M, and Neurology K D M, University of Iowa Carver College of Medicine, Iowa City and Department of Biostatistics K L, M B Z, College of Public Health, University of Iowa, Iowa City
Neurology 84:532-9. 2015..To determine the frequency of urologic and gastrointestinal (GI) symptoms in a cohort of individuals with dystroglycanopathy compared with healthy household controls...
- Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophyKatie L Lutz
From the University of Iowa Carver College of Medicine K L L, Department of Pediatrics L H, C S, K D M, Department of Communication Sciences and Disorders L H, College of Public Health S A K, and Department of Neurology K D M, University of Iowa, Iowa City
Neurology 81:1374-7. 2013..To describe the hearing loss in facioscapulohumeral muscular dystrophy (FSHD) and examine the relationship to genotype...
- Urological manifestations of Duchenne muscular dystrophyEric J Askeland
Department of Urology, University of Iowa, Iowa City, Iowa
J Urol 190:1523-8. 2013..To our knowledge urological complications of Duchenne muscular dystrophy have been described only anecdotally to date...
- LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscleGeorge Dialynas
Department of Biochemistry, University of Iowa, Iowa City, IA 52242, USA
Hum Mol Genet 21:1544-56. 2012....
- Genotype-phenotype correlations in recessive RYR1-related myopathiesKimberly Amburgey
Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
Orphanet J Rare Dis 8:117. 2013..To date, no clear patterns have been identified in these recessive mutations, though no systematic examination has yet been performed...
- Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARSJamie M Eskuri
The University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA
J Peripher Nerv Syst 17:132-4. 2012....
- Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophiesDaniel E Michele
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242 1101, USA
Nature 418:417-22. 2002....
- Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severityRishika A Pace
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Victoria, Australia
Ann Neurol 64:294-303. 2008..Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they cause these different phenotypes...
- The sarcolemma in the Large(myd) mousePatrick W Reed
Department of Physiology, University of Maryland School of Medicine, 660 West Redwood Street, Baltimore, Maryland 21201, USA
Muscle Nerve 30:585-95. 2004..Thus, the positioning of sarcolemmal proteins may have a profound effect on the health of skeletal muscle...
- Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndromeLeomar Y Ballester
Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37027 0275, USA
Hum Mutat 27:388. 2006..C101R) exhibited impaired trafficking. Our results demonstrate functional consequences of two novel trafficking-competent KCNJ2 mutations associated with Andersen syndrome and expand our knowledge of allelic diversity in this disease...
- Antioxidant use in Friedreich ataxiaLauren Myers
Department of Neurology, University of Pennsylvania School of Medicine, USA
J Neurol Sci 267:174-6. 2008..This confirms that non-prescription antioxidant use represents a major confounder to formal trials of existing and novel agents for Friedreich ataxia...