FLNC-Associated Myofibrillar Myopathy
Por um escritor misterioso
Last updated 09 novembro 2024
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
Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy
FLNC-Associated Myofibrillar Myopathy
Myofibrillar myopathy: MedlinePlus Genetics
Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese - Lee - 2020 - Clinical Genetics - Wiley Online Library
FLNC-Associated Myofibrillar Myopathy
A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report, BMC Neurology
Cells, Free Full-Text
A mutation update for the FLNC gene in myopathies and cardiomyopathies - Verdonschot - 2020 - Human Mutation - Wiley Online Library
Filamin C regulates skeletal muscle atrophy by stabilizing dishevelled-2 to inhibit autophagy and mitophagy - ScienceDirect
Filamin C regulates skeletal muscle atrophy by stabilizing dishevelled-2 to inhibit autophagy and mitophagy - ScienceDirect
Filamin C-related myopathies: pathology and mechanisms
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report, BMC Neurology
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