Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine; Guilherme Munhoz Essenfelder; Zoha Kibar; Isabelle Lanneluc; Edwige Callouet; Dalila Laoudj-Chenivesse; Gilles Lemaître; Colette Hand; Susan Hayflick; Jonathan Zonana; Stylianos Antonarakis; Uppala Radhakrishna; David Kelsell; Arnold Christianson; Amandine Pitaval; Vazken Der Kaloustian; Clarke Fraser; Claudine Blanchet-Bardon; Guy Rouleau; Gilles Waksman

doi:10.1038/79851

Back

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Journal article

Peer reviewed

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine, Guilherme Munhoz Essenfelder, Zoha Kibar, Isabelle Lanneluc, Edwige Callouet, Dalila Laoudj-Chenivesse, Gilles Lemaître, Colette Hand, Susan Hayflick, Jonathan Zonana, …

Nature Genetics, Vol.26(2), pp.142-144

10/2000

DOI: https://doi.org/10.1038/79851

PMID: 12669415

Abstract

Chromosomes, Human, Pair 4

Extrachromosomal Inheritance

Telomere

Transcription, Genetic

Gene Silencing

Homeodomain Proteins

Humans

Models, Genetic

Muscular Dystrophy, Facioscapulohumeral

Sequence Deletion

Tandem Repeat Sequences

Telomerase

Landouzy-Dejerine muscular dystrophy is a rare hereditary disease with prevalence of 0.9 to 1.4 in 100,000. Clinically the disease is characterized by weakness and atrophy of the facial and shoulder girdle muscles. It is caused by partial deletion of the 3.3-kb subtelomeric D4Z4 repeat on chromosome 4 (locus 4q35). This paper presents a critical review of the literature data and hypotheses explaining molecular mechanisms of progressive fascioscapulohumeral muscular dystrophy.

Files and links (1)

url

Find in HALView

Metrics

1 Record Views

See more details

Details

Title: Mutations in GJB6 cause hidrotic ectodermal dysplasia
Creators - without role: Jérôme Lamartine - Commissariat à l'Énergie Atomique et aux Énergies Alternatives
Guilherme Munhoz Essenfelder
Zoha Kibar - McGill University
Isabelle Lanneluc - Commissariat à l'Énergie Atomique et aux Énergies Alternatives
Edwige Callouet - Genethon
Dalila Laoudj-Chenivesse - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Gilles Lemaître
Colette Hand
Susan Hayflick - Oregon Health & Science University
Jonathan Zonana - Oregon Health & Science University
Stylianos Antonarakis - University of Geneva
Uppala Radhakrishna - University of Geneva
David Kelsell - Royal London Hospital
Arnold Christianson - University of Pretoria
Amandine Pitaval - Commissariat à l'Énergie Atomique et aux Énergies Alternatives
Vazken Der Kaloustian - Montreal Children's Hospital
Clarke Fraser - Montreal Children's Hospital
Claudine Blanchet-Bardon - Hôpital Saint-Louis
Guy Rouleau - McGill University
Gilles Waksman - Commissariat à l'Énergie Atomique et aux Énergies Alternatives
Publication Details: Nature Genetics, Vol.26(2), pp.142-144
Identifiers: 9937142609311
Academic Unit: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Language: English
Resource Type: Journal article
Local Fields: hal-03821103