Literature DB >> 8786062

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy.

M L Mostacciuolo1, M Miorin, F Martinello, C Angelini, P Perini, C P Trevisan.   

Abstract

Congenital muscular dystrophy (CMD) is a heterogeneous disease with autosomic recessive transmission. In an epidemiological study in four provinces of Veneto (region of 2 586 830 inhabitants in north-east Italy), the recorded incidence rate for the period 1979-1993 was 4.65 x 10(-5); the prevalence rate in the year 1993 was 6.8x10(-6). The incidence and the prevalence rates that we have obtained during the course of our investigation represent the first estimates for CMD in Europe and show that this myopathy is among the most frequent neuromuscular diseases with autosomic recessive transmission.

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Year:  1996        PMID： 8786062     DOI： 10.1007/BF02185752

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  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

2.  Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.

Authors:  T Toda; M Segawa; Y Nomura; I Nonaka; K Masuda; T Ishihara; M Sakai; I Tomita; Y Origuchi; M ] Suzuki M [corrected to Sakai
Journal:  Nat Genet       Date:  1993-11       Impact factor: 38.330

3.  Diagnostic criteria for Walker-Warburg syndrome.

Authors:  W B Dobyns; R A Pagon; D Armstrong; C J Curry; F Greenberg; A Grix; L B Holmes; R Laxova; V V Michels; M Robinow
Journal:  Am J Med Genet       Date:  1989-02

4.  Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

Authors:  D Hillaire; A Leclerc; S Fauré; H Topaloglu; N Chiannilkulchaï; P Guicheney; L Grinas; P Legos; J Philpot; T Evangelista
Journal:  Hum Mol Genet       Date:  1994-09       Impact factor: 6.150

Review 5.  Population frequencies of inherited neuromuscular diseases--a world survey.

Authors:  A E Emery
Journal:  Neuromuscul Disord       Date:  1991       Impact factor: 4.296

6.  Congenital muscular dystrophy with merosin deficiency.

Authors:  F M Tomé; T Evangelista; A Leclerc; Y Sunada; E Manole; B Estournet; A Barois; K P Campbell; M Fardeau
Journal:  C R Acad Sci III       Date:  1994-04

7.  Epidemiology of spinal muscular atrophies in a sample of the Italian population.

Authors:  M L Mostacciuolo; G A Danieli; C Trevisan; E Müller; C Angelini
Journal:  Neuroepidemiology       Date:  1992       Impact factor: 3.282

8.  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.  Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up.

Authors:  C P Trevisan; F Martinello; E Ferruzza; C Angelini
Journal:  Eur Neurol       Date:  1995       Impact factor: 1.710
  9 in total
  24 in total

Review 1.  Laminin-211 in skeletal muscle function.

Authors:  Johan Holmberg; Madeleine Durbeej
Journal:  Cell Adh Migr       Date:  2012-11-15       Impact factor: 3.405

2.  Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Authors:  Peter B Kang; Leslie Morrison; Susan T Iannaccone; Robert J Graham; Carsten G Bönnemann; Anne Rutkowski; Joseph Hornyak; Ching H Wang; Kathryn North; Maryam Oskoui; Thomas S D Getchius; Julie A Cox; Erin E Hagen; Gary Gronseth; Robert C Griggs
Journal:  Neurology       Date:  2015-03-31       Impact factor: 9.910

3.  Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Authors:  M Brockington; D J Blake; P Prandini; S C Brown; S Torelli; M A Benson; C P Ponting; B Estournet; N B Romero; E Mercuri; T Voit; C A Sewry; P Guicheney; F Muntoni
Journal:  Am J Hum Genet       Date:  2001-10-08       Impact factor: 11.025

Review 4.  Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.

Authors:  Marwa M Nabhan; Nour ElKhateeb; Daniela A Braun; Sungho Eun; Sahar N Saleem; Heon YungGee; Friedhelm Hildebrandt; Neveen A Soliman
Journal:  Am J Med Genet A       Date:  2017-08-17       Impact factor: 2.802

5.  The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy.

Authors:  Thomas E Hall; Robert J Bryson-Richardson; Silke Berger; Arie S Jacoby; Nicholas J Cole; Georgina E Hollway; Joachim Berger; Peter D Currie
Journal:  Proc Natl Acad Sci U S A       Date:  2007-04-16       Impact factor: 11.205

6.  Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

Authors:  M Fanin; D J Duggan; M L Mostacciuolo; F Martinello; M P Freda; G Sorarù; C P Trevisan; E P Hoffman; C Angelini
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

7.  Prevalence of congenital muscular dystrophy in Italy: a population study.

Authors:  Alessandra Graziano; Flaviana Bianco; Adele D'Amico; Isabella Moroni; Sonia Messina; Claudio Bruno; Elena Pegoraro; Marina Mora; Guja Astrea; Francesca Magri; Giacomo P Comi; Angela Berardinelli; Maurizio Moggio; Lucia Morandi; Antonella Pini; Roberta Petillo; Giorgio Tasca; Mauro Monforte; Carlo Minetti; Tiziana Mongini; Enzo Ricci; Ksenija Gorni; Roberta Battini; Marcello Villanova; Luisa Politano; Francesca Gualandi; Alessandra Ferlini; Francesco Muntoni; Filippo Maria Santorelli; Enrico Bertini; Marika Pane; Eugenio Mercuri
Journal:  Neurology       Date:  2015-02-04       Impact factor: 9.910

8.  Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.

Authors:  Radhika Mhatre; Deepha Sekar; Jessiena Ponmalar; Madhu Nagappa; Preethish-Kumar Veeramani; Kiran Polavarapu; Seena Vengalil; Nalini Atchayaram; Gayathri Narayanappa
Journal:  Ann Indian Acad Neurol       Date:  2020-07-24       Impact factor: 1.383

Review 9.  The role of defective glycosylation in congenital muscular dystrophy.

Authors:  Harry Schachter; Jiri Vajsar; Wenli Zhang
Journal:  Glycoconj J       Date:  2004       Impact factor: 3.009

10.  Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Authors:  Keren J Carss; Elizabeth Stevens; A Reghan Foley; Sebahattin Cirak; Moniek Riemersma; Silvia Torelli; Alexander Hoischen; Tobias Willer; Monique van Scherpenzeel; Steven A Moore; Sonia Messina; Enrico Bertini; Carsten G Bönnemann; Jose E Abdenur; Carla M Grosmann; Akanchha Kesari; Jaya Punetha; Ros Quinlivan; Leigh B Waddell; Helen K Young; Elizabeth Wraige; Shu Yau; Lina Brodd; Lucy Feng; Caroline Sewry; Daniel G MacArthur; Kathryn N North; Eric Hoffman; Derek L Stemple; Matthew E Hurles; Hans van Bokhoven; Kevin P Campbell; Dirk J Lefeber; Yung-Yao Lin; Francesco Muntoni
Journal:  Am J Hum Genet       Date:  2013-06-13       Impact factor: 11.025
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