Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy-Reference-Cited by-同舟云学术

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

Published:2005-07 Issue:7 Volume:15 Page:471-475
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Buzhov Borian T.,Lemmers Richard J.L.F.,Tournev Ivailo,van der Wielen Michiel J.R.,Ishpekova Boriana,Petkov Radoslav,Petrova Julia,Frants Rune R.,Padberg George W.,van der Maarel Silvère M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference25 articles.

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2. Facioscapulohumeral muscular dystrophy: phenotype–genotype correlation in patients with borderline D4Z4 repeat numbers;Butz;J Neurol,2003

3. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter;Deidda;Eur J Hum Genet,1995

4. Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A;Goto;J Med Genet,2004

5. Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis;Kohler;Hum Genet,1996

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2. Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35);Genomics;2012-11

3. Somatic gene mutation and human disease other than cancer: An update;Mutation Research/Reviews in Mutation Research;2010-10

4. Facioscapulohumeral Muscular Dystrophy: Genetics;eLS;2007-09-28

5. Facioscapulohumeral muscular dystrophy;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2007-02