NDLI: Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.

Please wait, while we are loading the content...

Year: 2017 Volume: 173

Year: 2016 Volume: 170

Year: 2016 Volume: 170A

Year: 2015 Volume: 167A

Year: 2015 Volume: 167

Year: 2014 Volume: 164A

Year: 2013 Volume: 161A

Year: 2012 Volume: 158A

Year: 2011 Volume: 155A

Year: 2011 Volume: 155A Issue: 12

ASD is an incorrect abbreviation for autism spectrum disorders.

Abbreviations and terminology surrounding autism spectrum disorders and intellectual disability.

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication.

Patterns of prenatal alcohol exposure and associated non-characteristic minor structural malformations: a prospective study.

Ablepharon-Macrostomia syndrome--extension of the phenotype.

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12.

A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.

Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.

Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.

Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene.

Biological and epidemiological evidence of interaction of infant genotypes at Rs7205289 and maternal passive smoking in cleft palate.

Clinical manifestations and management of four children with Pearson syndrome.

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.

A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.

Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan.

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.

Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test.

A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: a case report and review of literature.

A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.

Objective assessment of nasality in flemish adults with neurofibromatosis type $1^{†}$

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.

Mental retardation or intellectual disability? Time for a change.

Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections.

Minimal genotype--phenotype correlation for small deletions within distal 1p36.

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.

Genetic drift. The mall test (or fun with a dysmorphologist).

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.

Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.

A newborn with overlapping features of AEC and EEC syndromes.

Reassessment of oral frenula in Ehlers-Danlos syndrome: a study of 32 patients with the hypermobility type.

Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay.

Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 â q12.1 and 19p12 â q12 regions in a child featuring multiple congenital anomalies.

Genetic Alliance marks 25 years.

Gene patent pool set to launch.

Year: 2011 Volume: 155A Issue: 11

Year: 2011 Volume: 155A Issue: 10

Year: 2011 Volume: 155A Issue: 9

Year: 2011 Volume: 155A Issue: 8

Year: 2011 Volume: 155A Issue: 7

Year: 2011 Volume: 155A Issue: 6

Year: 2011 Volume: 155A Issue: 5

Year: 2011 Volume: 155A Issue: 4

Year: 2011 Volume: 155A Issue: 3

Year: 2011 Volume: 155A Issue: 2

Year: 2011 Volume: 155A Issue: 1

Year: 2010 Volume: 152A

Year: 2009 Volume: 149A

Year: 2008 Volume: 146A

Year: 2007 Volume: 143A

Year: 2006 Volume: 140

Year: 2005 Volume: 139

Year: 2005 Volume: 139A

Year: 2005 Volume: 138

Year: 2005 Volume: 138A

Year: 2005 Volume: 137A

Year: 2005 Volume: 137

Year: 2005 Volume: 136

Year: 2005 Volume: 135

Year: 2005 Volume: 134

Year: 2005 Volume: 134A

Year: 2005 Volume: 133A

Year: 2005 Volume: 132A

Year: 2004 Volume: 128A

Year: 2004 Volume: 124A

Year: 2003 Volume: 123A

Year: 2003 Volume: 121A

Year: 2003 Volume: 118A

Year: 2003 Volume: 116A

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Martinez, Hugo R. Pignatelli, Ricardo Belmont, John W. Craigen, William J. Jefferies, John L.
Description	Country affiliation: United States Author Affiliation: Martinez HR ( Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas 77030, USA.)
Abstract	Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked disorders that result from a mutation in the dystrophin gene that reduces the production or effectiveness of the protein dystrophin. These disorders are clinically characterized by progressive muscle degeneration. Manifesting female carriers are generally not identified as such until after puberty, when symptoms such as muscle weakness may arise. This clinical report describes a female manifesting carrier who started to show deterioration of left ventricular systolic function, but no marked skeletal muscle weakness, at the age of 10 years. The patient's cardiac function improved significantly after dual drug therapy with an ACE inhibitor (enalapril) and a beta-blocker (carvedilol). Our case adds to the existing evidence that left ventricular myocardial dysfunction may occur during childhood in female carriers of dystrophinopathies.
File Format	HTM / HTML
ISSN	15524825
Issue Number	12
Volume Number	155A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2011-12-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Heterozygote Muscular Dystrophy, Duchenne Complications Genetics Ventricular Dysfunction, Left Diagnosis Child Child, Preschool Dystrophin Echocardiography Electrocardiography Female Humans Mutation Drug Therapy Etiology Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in