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3 articles related to "Hereditary Myopathy"

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Articles

Brief Research Report

Published on 02 Jun 2025

Autosomal dominant myopathy caused by a novel ISCU variant

in Genetics of Common and Rare Diseases

Joanna M. Rusecka
Camilla Ceccatelli Berti
Dominika Szczęśniak
Małgorzata Bednarska-Makaruk
Magdalena Mroczek
Magdalena M. Kacprzak
Agnieszka Sobczyńska-Tomaszewska
Paola Goffrini

Frontiers in Genetics

doi 10.3389/fgene.2025.1605440

2,063 views

Original Research

Published on 15 Sep 2020

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center

in Neuromuscular Disorders and Peripheral Neuropathies

Yue-Bei Luo
Yuyao Peng
Yuling Lu
Qiuxiang Li
Huiqian Duan
Fangfang Bi
Huan Yang

Frontiers in Neurology

doi 10.3389/fneur.2020.01014

8,355 views
12 citations

Original Research

Published on 28 Apr 2023

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature

in Neuromuscular Disorders and Peripheral Neuropathies

Xiao-jing Wei
Hui Sun
Jing Miao
Ru-qing Qiu
Zong-zhi Jiang
Zhen-wei Ma
Wei Sun
Xue-fan Yu

Frontiers in Neurology

doi 10.3389/fneur.2023.1152738

6,223 views
3 citations