Concepedia

A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine

Macarena Cabrera‐Serrano, Fabiola Mavillard, Valérie Biancalana, Eloy Rivas, Bharti Morar, Aurelio Hernández‐Laín, Montse Olivé, Nuria Muelas, Eduardo Khan, Alejandra Carvajal,

Neurology · 2018 · 23 citations · 18 references

DOIFull text

Open access

Abstract

We have identified a <i>BIN1</i> founder Roma mutation associated with a highly specific phenotype, which is, from the present cohort, the main cause of CNM in Spain.

References

18

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 30.5K citations · Full text

, , +11

The BAR Domain Superfamily: Membrane-Molding Macromolecules

Adam Frost, Vinzenz M. Unger, Pietro De Camilli · Cell · 2009 · 594 citations · Full text

, , +4

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Anne-Sophie Nicot, Anne Toussaint, Valérie Tosch et al. · Nature Genetics · 2007 · 420 citations

, , +7

Origins and Divergence of the Roma (Gypsies)

David Gresham, Bharti Morar, Peter A. Underhill et al. · The American Journal of Human Genetics · 2001 · 206 citations · Full text

, , +4

Mutation History of the Roma/Gypsies

Bharti Morar, David Gresham, Dora Angelicheva et al. · The American Journal of Human Genetics · 2004 · 165 citations · Full text

, , +6