Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature

Acta Neuropathologica
Stephan NeudeckerStephan Zierz

Abstract

Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies, oculopharyngeal myopathy, polymyositis, rigid spine syndrome, congenital myopathies, and some limb girdle muscular dystrophies, as well as in various neurogenic diseases. We describe a patient with RV in familial facioscapulohumeral muscular dystrophy (FSHD) associated with an FSHD-typical deletion on chromosome 4q35. Thus, FSHD should be included in the differential diagnosis of neuromuscular disorders with RV.

Citations

Jun 30, 2005·Acta Neuropathologica·Mehar C SharmaHans H Goebel
Feb 2, 2010·Journal of the Neurological Sciences·Michael KottlorsJanbernd Kirschner
Jun 9, 2009·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Vasiliki ZouvelouDemetris Vassilopoulos
Sep 17, 2011·Muscle & Nerve·Sanjeev RajakulendranMichael G Hanna
May 28, 2008·Neuropathology : Official Journal of the Japanese Society of Neuropathology·He LuChuanzhu Yan
Nov 8, 2007·Physical Therapy·Shree PandyaRabi Tawil
May 29, 2019·Journal of Clinical Neuromuscular Disease·Shri K MishraRobert Freundlich
Aug 20, 2020·Journal of Neurology·Liliana VercelliRossella Tupler
Dec 12, 2018·Rheumatology International·Katarzyna HaczkiewiczMarzenna Podhorska-Okołów
Nov 6, 2012·Biology Open·Sachchida N PandeyYi-Wen Chen

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