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FLNC-Associated Myofibrillar Myopathy

Por um escritor misterioso

Last updated 12 abril 2025

Differential Diagnosis of Distal Myopathies - Practical Neurology

FLNc expression in different mouse muscles, and soleus muscle of

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

Muscles, Free Full-Text

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

PDF) P.82First clinical and neuropathological description of a myofibrillar myopathy with congenital onset based on a homozygous recessive FLNC mutation

Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood, Orphanet Journal of Rare Diseases

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies, Orphanet Journal of Rare Diseases

FLNC Antibody (NBP1-89300): Novus Biologicals

Molecular pathology of myofibrillar myopathies, Expert Reviews in Molecular Medicine

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