FLNC-Associated Myofibrillar Myopathy
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IJMS, Free Full-Text
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood, Orphanet Journal of Rare Diseases
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation, Acta Neuropathologica Communications
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation, Acta Neuropathologica Communications
Cells, Free Full-Text
Filamin C regulates skeletal muscle atrophy by stabilizing dishevelled-2 to inhibit autophagy and mitophagy - ScienceDirect
A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report, BMC Neurology
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
Molecular pathology of myofibrillar myopathies, Expert Reviews in Molecular Medicine