Literature DB >> 6714263

Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families.

R Korinthenberg, D Palm, W Schlake, J Klein.   

Abstract

We report on two brothers and an unrelated girl with congenital muscular dystrophy (CMD), brain malformation and ocular changes (strabismus, myopia, glaucoma, cataracts, retinal dystrophy). Correlations with the inherited autosomal recessive syndromes of CMD, including the Fukuyama-type CMD with CNS malformation, and the Muscle, Eye and Brain Disease published by Santavuori are discussed.

Entities:  

Mesh：

Year:  1984        PMID： 6714263     DOI： 10.1007/bf00442595

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  Ophthalmological findings in a new syndrome with muscle, eye and brain involvement.

Authors:  C Raitta; M Lamminen; P Santavuori; J Leisti
Journal:  Acta Ophthalmol (Copenh)       Date:  1978-06

2.  Congenital muscular dystrophies and unstructured congenital myopathies.

Authors:  H G Lenard; H H Goebel
Journal:  Brain Dev       Date:  1980       Impact factor: 1.961

3.  Changes in cerebral white matter in a case of congenital muscular dystrophy.

Authors:  J M Gobernado; A Gimeno
Journal:  Pediatr Radiol       Date:  1982

4.  [Congenital muscular dystrophy].

Authors:  F Vassella; M Mumenthaler; E Rossi; H Moser; U Wiesmann
Journal:  Dtsch Z Nervenheilkd       Date:  1967

5.  Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations.

Authors:  Y Fukuyama; M Osawa; H Suzuki
Journal:  Brain Dev       Date:  1981       Impact factor: 1.961

6.  Congenital muscular dystrophy: a clinicopathologic report of 24 cases.

Authors:  J B McMenamin; L E Becker; E G Murphy
Journal:  J Pediatr       Date:  1982-05       Impact factor: 4.406

7.  Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy.

Authors:  W von Petrykowski; R Beckmann; N Böhm; U P Ketelsen; H H Ropers; M Sauer
Journal:  Helv Paediatr Acta       Date:  1982-09

8.  Involvement of the central nervous system in congenital muscular dystrophies.

Authors:  J Egger; B E Kendall; M Erdohazi; B D Lake; J Wilson; E M Brett
Journal:  Dev Med Child Neurol       Date:  1983-02       Impact factor: 5.449

9.  Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family.

Authors:  J B Krijgsman; P G Barth; F C Stam; J L Slooff; H H Jaspar
Journal:  Neuropadiatrie       Date:  1980-05

10.  Ophthalmological findings of muscular dystrophies: a survey of 53 cases.

Authors:  Y Honda; M Yoshioka
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1978 Jul-Aug       Impact factor: 1.402
View more
  9 in total

1.  Ocular malformations and lissencephaly.

Authors:  M Warburg
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

Review 2.  Genetic factors in lissencephaly syndromes: a review.

Authors:  P Miny; W Holzgreve; J Horst
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

3.  Neuropathology of lissencephalies.

Authors:  K Kuchelmeister; M Bergmann; F Gullotta
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

4.  Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?

Authors:  A M Laverda; M A Battaglia; P Drigo; P A Battistella; G L Casara; A Suppiej; R Casellato
Journal:  Childs Nerv Syst       Date:  1993-04       Impact factor: 1.475

5.  Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.

Authors:  J Towfighi; J W Sassani; K Suzuki; R L Ladda
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088

6.  Neurosurgical management of Walker-Warburg syndrome.

Authors:  J F Martínez-Lage; J M García Santos; M Poza; A Puche; C Casas; T Rodriguez Costa
Journal:  Childs Nerv Syst       Date:  1995-03       Impact factor: 1.475

7.  Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Authors:  B Cormand; K Avela; H Pihko; P Santavuori; B Talim; H Topaloglu; A de la Chapelle; A E Lehesjoki
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

Review 8.  Congenital muscular dystrophy: from muscle to brain.

Authors:  Raffaele Falsaperla; Andrea D Praticò; Martino Ruggieri; Enrico Parano; Renata Rizzo; Giovanni Corsello; Giovanna Vitaliti; Piero Pavone
Journal:  Ital J Pediatr       Date:  2016-08-31       Impact factor: 2.638

9.  Congenital muscular dystrophy: brain alterations in an unselected series of Western patients.

Authors:  C P Trevisan; C Carollo; P Segalla; C Angelini; P Drigo; R Giordano
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-04       Impact factor: 10.154
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.