FLNC-Associated Myofibrillar Myopathy
Por um escritor misterioso
Descrição
New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease – topic of research paper in Clinical medicine. Download scholarly article PDF and
Myofibrillar myopathy: MedlinePlus Genetics
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Analysis of a putative second dimerization region in FLNc. a
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation, Acta Neuropathologica Communications
Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation
IJMS, Free Full-Text
Frontiers Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation, Acta Neuropathologica Communications
Filamin C-related myopathies: pathology and mechanisms
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