Neurologia i neurochirurgia polska
SIGMAR1 gene-related neuromuscular disorders - what do we know?
Maciej Kalita, Maria Jędrzejowska, Anna Potulska-Chromik, Karolina Aragon-Gawińska, Maria Franaszczyk, Tomasz Stokłosa, Marta Lipowska, Anna Kostera-Pruszczyk
Published: 202510.5603/pjnns.106304
Abstract
INTRODUCTION: Distal hereditary motor neuropathies (dHMNs) are a clinically and genetically diverse group of rare neuromuscular disorders characterized by progressive distal muscle weakness and atrophy, often with early onset and sparing of sensory f…
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