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FLNC-Associated Myofibrillar Myopathy

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Last updated 25 dezembro 2024

Cells, Free Full-Text

FLNC Antibody (NBP1-89300): Novus Biologicals

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report, BMC Neurology

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation, Acta Neuropathologica Communications

FLNC-Associated Myofibrillar Myopathy

A mutation update for the FLNC gene in myopathies and cardiomyopathies - Verdonschot - 2020 - Human Mutation - Wiley Online Library

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy - Brodehl - 2016 - Human Mutation - Wiley Online Library

Molecular pathology of myofibrillar myopathies, Expert Reviews in Molecular Medicine

JCDD, Free Full-Text

Frontiers Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes

PDF) FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data

Myofibrillar myopathy: MedlinePlus Genetics

PDF) First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation, Acta Neuropathologica Communications

Structure of the FLNC gene and filamin C protein. (a) Within the human

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