Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases
about
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.External Ophthalmoplegia, Pigmentary Degeneration of the Retina, and Cardiomyopathy: A Newly Recognized Syndrome.Cone and rod dysfunction in the NARP syndromeKearns-Sayre syndrome: a case series of 35 adults and childrenBiochemical studies in mitochondrial encephalomyopathy.Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndromeTreatment of ptosis in chronic progressive external ophthalmoplegiaYoung-onset dementiaComparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorderMedical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.Cardiomyopathy in the Kearns-Sayre syndrome.MELAS syndromeOculomotor-corpus callosum dysplasiaThe Kearns-Sayre syndrome: a light and electron microscopic study.The neuro-ophthalmology of mitochondrial diseaseLevator resection in the management of myopathic ptosis.Neuroimaging of mitochondrial disease.Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expressionMitochondrial DNA: impacting central and peripheral nervous systems.Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy.Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.Nephrogenic diabetes insipidus and intracerebral calcification.The genetics of strabismusTeaching monograph: pathology of skeletal muscle diseases.Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.Kearns-Sayre syndrome: An unusual ophthalmic presentation.Skeletal muscle pathology in chronic heart block.Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.Mitochondrial DNA abnormalities in ophthalmological disease.Abiotrophic ophthalmoplegia externa.Disease progression in patients with single, large-scale mitochondrial DNA deletions.Human mitochondrial DNA: roles of inherited and somatic mutations.A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation.Oculopharyngeal myopathy with distal and cardiomyopathy.PROGRESSIVE MUSCULAR DYSTROPHY INVOLVING THE EXTRA-OCULAR MUSCLES WITH NOTES CONCERNING OPERATIVE TREATMENT OF THE ASSOCIATED DIVERGENT SQUINT.Chronic progressive external ophthalmoplegia. A review and case report.
P2860
Q24514945-41EBC039-DA55-41C8-AD3C-5AF2142D585BQ24538979-7E406398-9F61-40D2-BD2C-B036E01A1097Q28139048-A478AA59-70EF-4905-B7BD-3D9F8CFEC156Q33164555-F02CC53A-1E3A-4DB3-8808-F1ED9D68E255Q33629607-DC1585A8-1DFB-4639-957C-C29A6A160331Q33644743-62770372-439F-4456-9CDD-FCDBAF3D7AD2Q33645549-B06E5440-5109-4A2E-A9C1-3758AEF15102Q33660849-78E28017-C4CC-4BF9-B5D2-4CA07E490C87Q33672790-9AF6CB63-7BF4-43EB-9159-DE458EB4B07BQ33672801-59E6566B-714D-46F8-A75C-8868D2E63227Q33906963-5CE7BEE6-DC8E-4B74-AA15-0C68EEA4AE67Q33999538-BF9FE711-0B45-4CF8-BAEB-12FE33237108Q34182102-6E61938A-4736-4353-8A90-F7E8ECA09D93Q34212261-AB14A28D-7399-4B8F-8A33-02568B0E5F70Q34212290-5B968078-DE6F-484D-A38C-FE68C3864064Q34338783-4109A2A2-D35C-4818-B50B-FA303FD14B40Q34551891-D1F540D4-82A0-4A9B-B1E2-9B04E8E040DFQ34593678-C1EA9F38-4634-4117-B982-655D9CC1877CQ34707671-6362BBC8-A1C2-41AA-93B4-FDD3C2F98280Q34737643-6B2EA505-19F8-463D-B457-A2AAB7EDC967Q34783737-7F6F6FBD-5891-4BD1-A9E8-0F398EB1E925Q35115281-98D7B3CD-2C8A-424D-9C9B-FE495D249E76Q35607620-B920D171-5F00-4F02-B03C-102BFD4825F2Q35625480-3CF4D184-7429-4889-89B6-BB119120B833Q35876992-A080BAB8-735C-4764-B093-627C81C1DBD2Q35884957-4E530E86-8E21-42F3-AD8D-D729C23641C9Q35950795-57BFF46E-6DE8-4911-B411-56AFCE85FD91Q36231448-FD68AA92-C65C-4666-B0BF-0D902A0FA37BQ36609563-A3AD0B40-1F9A-430C-A0B7-768395422A0AQ36634566-B2CC4866-AEB2-4BEF-893F-1B17794A77A7Q37005220-D85829E5-9EF6-43F9-AFDC-65EADE997FAAQ37011332-D8F2EA78-F920-4AD5-9176-4D1ECD7E6C32Q37060104-C4846D68-2857-4E7C-893D-3B0FAB38E0A7Q37400319-3145C4B5-2A7E-4C1F-B95B-442879223D44Q37557004-644FB706-502B-46C0-A717-A3C54E6400FCQ37648855-7B735C7E-5BF8-4208-A4B4-3BFFF0450B39Q38742580-FB0482D4-68C0-45C2-8640-E9FBB4A1F361Q39318936-C725E819-9003-49F1-9E99-F7EC00BFAA4AQ39734100-CFB91A87-052E-4A31-AB43-C9F4B66F0697Q40072838-40FF1130-48CA-4101-930C-DCD211CE8212
P2860
Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases
description
1958 nî lūn-bûn
@nan
1958 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1958 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1958年の論文
@ja
1958年論文
@yue
1958年論文
@zh-hant
1958年論文
@zh-hk
1958年論文
@zh-mo
1958年論文
@zh-tw
1958年论文
@wuu
name
Retinitis pigmentosa, external ...... ogic study in one of two cases
@ast
Retinitis pigmentosa, external ...... ogic study in one of two cases
@en
Retinitis pigmentosa, external ...... ogic study in one of two cases
@nl
type
label
Retinitis pigmentosa, external ...... ogic study in one of two cases
@ast
Retinitis pigmentosa, external ...... ogic study in one of two cases
@en
Retinitis pigmentosa, external ...... ogic study in one of two cases
@nl
prefLabel
Retinitis pigmentosa, external ...... ogic study in one of two cases
@ast
Retinitis pigmentosa, external ...... ogic study in one of two cases
@en
Retinitis pigmentosa, external ...... ogic study in one of two cases
@nl
P1476
Retinitis pigmentosa, external ...... ogic study in one of two cases
@en
P2093
P304
P407
P577
1958-08-01T00:00:00Z