TY  - JOUR
AU  - Cabrera-Serrano, Macarena
AU  - Mavillard, Fabiola
AU  - Biancalana, Valerie
AU  - Rivas, Eloy
AU  - Morar, Bharti
AU  - Hernández-Laín, Aurelio
AU  - Olive, Montse
AU  - Muelas, Nuria
AU  - Khan, Eduardo
AU  - Carvajal, Alejandra
AU  - Quiroga, Pablo
AU  - Diaz-Manera, Jordi
AU  - Davis, Mark
AU  - Ávila, Rainiero
AU  - Domínguez, Cristina
AU  - Romero, Norma Beatriz
AU  - Vílchez, Juan J
AU  - Comas, David
AU  - Laing, Nigel G
AU  - Laporte, Jocelyn
AU  - Kalaydjieva, Luba
AU  - Paradas, Carmen
PY  - 2018
DO  - 10.1212/WNL.0000000000005862
UR  - https://hdl.handle.net/10668/28323
T2  - Neurology
AB  - To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. Patients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in...
LA  - en
KW  - Adaptor Proteins, Signal Transducing
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Cohort Studies
KW  - Founder Effect
KW  - Humans
KW  - Mallory Bodies
KW  - Middle Aged
KW  - Muscular Dystrophies
KW  - Mutation
KW  - Myopathies, Structural, Congenital
KW  - Nuclear Proteins
KW  - Phenotype
KW  - Prospective Studies
KW  - Retrospective Studies
KW  - Roma
KW  - Scoliosis
KW  - Spain
KW  - Tumor Suppressor Proteins
KW  - Young Adult
TI  - A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.
TY  - research article
VL  - 91
ER  -