FLNC-Associated Myofibrillar Myopathy

Por um escritor misterioso

Last updated 20 setembro 2024

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC - Kölbel - 2020 - Human Mutation - Wiley Online Library

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

FLNC (gene) - Wikipedia

FLNC-Associated Myofibrillar Myopathy

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

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

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report, BMC Neurology

PDF) A Mutation Update for the FLNC gene in Myopathies and Cardiomyopathies

Filamin-C variant-associated cardiomyopathy: A pooled analysis of individual patient data to evaluate the clinical profile and risk of sudden cardiac death - Heart Rhythm

Filamin C-related myopathies: pathology and mechanisms

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