Spongious Hypertrophic Cardiomyopathy in Patients With Mutations in the Four-and-a-Half LIM Domain 1 Gene | Zendy

Josepha Binder | Zendy; Frank Weidemann | Zendy; Benedikt Schoser | Zendy; Markus Niemann | Zendy; Wolfram Machann | Zendy; Meinrad Beer | Zendy; Gernot Plank | Zendy; Albrecht Schmidt | Zendy; Egbert Bisping | Zendy; Ivana Poparic | Zendy; Ingrid Lafer | Zendy; Tatjana Stojaković | Zendy; Stefan Quasthoff | Zendy; John B. Vincent | Zendy; Rainer Rienmueller | Zendy; Michael R. Speicher | Zendy; Andrea Berghold | Zendy; Burkert Pieske | Zendy; Christian Windpassinger | Zendy

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Spongious Hypertrophic Cardiomyopathy in Patients With Mutations in the Four-and-a-Half LIM Domain 1 Gene

Author(s) -

Josepha Binder,

Frank Weidemann,

Benedikt Schoser,

Markus Niemann,

Wolfram Machann,

Meinrad Beer,

Gernot Plank,

Albrecht Schmidt,

Egbert Bisping,

Ivana Poparic,

Ingrid Lafer,

Tatjana Stojaković,

Stefan Quasthoff,

John B. Vincent,

Rainer Rienmueller,

Michael R. Speicher,

Andrea Berghold,

Burkert Pieske,

Christian Windpassinger

Publication year - 2012

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.111.962332

Subject(s) - myopathy , atrophy , medicine , hypertrophic cardiomyopathy , cardiomyopathy , cardiology , endocrinology , muscle atrophy , heterozygote advantage , genotype , heart failure , biology , gene , genetics

X-linked myopathy with postural muscle atrophy is a novel X-linked myopathy caused by mutations in the four-and-a-half LIM domain 1 gene (FHL1). Cardiac involvement was suspected in initial publications. We now systematically analyzed the association of the FHL1 genotype with the cardiac phenotype to establish a potential cardiac involvement in the disease.

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