扩大与细丝蛋白C相关的肌原纤维肌病的表型。

Expanding the phenotype of filamin-C-related myofibrillar myopathy.

作者信息

Borch Josefine de Stricker, Eisum Anne-Sofie Vibæk, Krag Thomas, Vissing John

机构信息

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.

出版信息

Clin Neurol Neurosurg. 2019 Jan;176:30-33. doi: 10.1016/j.clineuro.2018.11.013. Epub 2018 Nov 19.

DOI:10.1016/j.clineuro.2018.11.013

PMID:30496909

Abstract

We report three patients with a rare filamin C myofibrillar myopathy. They present with atypical symptoms that expand the phenotype of filaminopathy. The new findings are progressive contractures of muscles surrounding the temporomandibular joint, detailed single myofiber histology findings and demonstration of severe affection of paraspinal muscles on MRI.

摘要

我们报告了3例患有罕见的细丝蛋白C型肌原纤维肌病的患者。他们表现出非典型症状，这些症状扩展了细丝蛋白病的表型。新发现包括颞下颌关节周围肌肉的进行性挛缩、详细的单肌纤维组织学发现以及MRI显示的椎旁肌严重受累情况。