FLNC-Associated Myofibrillar Myopathy

Myofibrillar myopathy: MedlinePlus Genetics

Force-Dependent Structural Changes of Filamin C Rod Domains Regulated by Filamin C Dimer

Force-Dependent Structural Changes of Filamin C Rod Domains Regulated by Filamin C Dimer

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

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

FLNC-Associated Myofibrillar Myopathy

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

JCDD, Free Full-Text

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort

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

New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease – topic of research paper in Clinical medicine. Download scholarly article PDF and

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

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