Katherine D Mathews
Affiliation: University of Iowa
- 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...
- 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...
- 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 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...
- 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...
- 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....
- 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...
- 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...
- 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...