Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita

Author:

Feingold-Zadok Michal123,Chitayat David4,Chong Karen4,Injeyan Marie4,Shannon Patrick5,Chapmann Daphne1,Maymon Ron23,Pillar Nir6,Reish Orit12

Affiliation:

1. Genetic Institute; Assaf Harofeh Medical Center; Zerifin Israel

2. Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel

3. Department of Obstetrics and Gynecology Ward, Ultrasound Unit; Assaf Harofeh Medical Center; Zerifin Israel

4. Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and gynecology, Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada

5. Department of Laboratory Medicine and Pathobiology, Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada

6. Bioinformatic Division, Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference22 articles.

1. GeneReviews®Internet Nemaline myopathy

2. Mutation update: the spectra of nebulin variants and associated myopathies;Lehtokari;Hum Mutat,2014

3. Recent advances in nemaline myopathy;Romero;Curr Opin Neurol,2013

4. Nemaline myopathy: a clinical study of 143 cases;Ryan;Ann Neurol,2001

5. Fetal akinesia sequence caused by nemaline myopathy;Lammens;Neuropediatrics,1997

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