FLNC-Associated Myofibrillar Myopathy

Por um escritor misterioso

Last updated 02 janeiro 2025

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

Expanding the central nervous system disease spectrum associated with FLNC mutation - Previtali - 2019 - Muscle & Nerve - Wiley Online Library

Muscles, Free Full-Text

FLNC-Associated Myofibrillar Myopathy

Filamin C regulates skeletal muscle atrophy by stabilizing dishevelled-2 to inhibit autophagy and mitophagy - ScienceDirect

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

Cureus, DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy

FLNC Antibody (NBP1-89300): Novus Biologicals

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

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