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Article

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Neurology - 24 Jul 2018

Cabrera-Serrano Macarena, Mavillard Fabiola, Biancalana Valerie, Rivas Eloy, Morar Bharti, Hernández-Laín Aurelio, Olive Montse, Muelas Nuria, Khan Eduardo, Carvajal Alejandra, Quiroga Pablo, Diaz-Manera Jordi, Davis Mark, Ávila Rainiero, Domínguez Cristina, Romero Norma Beatriz, Vílchez Juan J, Comas David, Laing Nigel G, Laporte Jocelyn, Kalaydjieva Luba, Paradas Carmen

Abstract excerpt

OBJECTIVE: To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. METHODS: Patients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed. RESULTS: Eighteen...

Topics

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Adaptor Proteins, Signal Transducing
Founder Effect
Muscular Dystrophies
Myopathies, Structural, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tumor Suppressor Proteins

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Identifiers

PMID: 29950440
DOI: 10.1212/WNL.0000000000005862
PMCID: PMC6070382

Genes

BIN1

Variants

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