Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy [PDF]
Neurol Genet, 2016 Objective: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. Methods: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of ...
D. Lewis-Smith +7 more
semanticscholar +5 more sources
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene [PDF]
Neurol Genet, 2021 Background and Objectives To determine the genetic cause of the disease in the previously reported family with adult-onset autosomal dominant distal myopathy (myopathy, distal, 3; MPD3).
P. Hackman +15 more
semanticscholar +2 more sources
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness [PDF]
Neurol Genet, 2021 Background and Objectives To clinically, genetically, and histopathologically characterize patients presenting with an unusual combination of distal myopathy and facial weakness, without involvement of upper limb or shoulder girdle muscles.
M. Savarese +14 more
semanticscholar +2 more sources
A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores [PDF]
CNS Neurosci Ther, 2021 Distal myopathies are a group of rare muscle disorders characterized by selective or predominant weakness in the feet and/or hands. In 2019, ACTN2 gene was firstly identified to be a cause of a new adult‐onset distal muscular dystrophy calling ...
Lei Chen +4 more
semanticscholar +2 more sources
A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report [PDF]
BMC Neurology, 2023 Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness ...
Zhiyong Chen +12 more
doaj +2 more sources
Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination [PDF]
J Neurol, 2020 Objective MATR3-associated distal myopathy is a rare distal myopathy predominantly affecting lower legs as well as wrist- and finger extensors. Whilst most distal myopathies are clinically and genetically well characterized, diagnosis often remains ...
Alexander Mensch +5 more
semanticscholar +2 more sources
Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series [PDF]
Frontiers in GeneticsRecent research has sparked a discussion on the spectrum of diseases linked to the MATR3 gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM).
Aysylu Murtazina +13 more
doaj +2 more sources
A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family [PDF]
Chin Med J (Engl), 2019 Written informed consent was obtained from each To the Editor: Distal myopathy is a heterogenetic disorder characterized by early distal lower limb involvement, participant.
Xiangyi Liu +5 more
semanticscholar +2 more sources
Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. [PDF]
Exp Ther Med, 2018 Distal myopathy with rimmed vacuoles (DMRV) is a rare, autosomal, recessive inherited disease caused by mutations in the GNE gene. DMRV is an adult-onset disorder characterized by progressive muscle atrophy and weakness, which initially involves the ...
F. Su +4 more
semanticscholar +2 more sources
A Heterologous Cell Model for Studying the Role of T-Cell Intracellular Antigen 1 in Welander Distal Myopathy [PDF]
Mol Cell Biol, 2018 Welander distal myopathy (WDM) is a muscle dystrophy characterized by adult-onset distal muscle weakness, prevalently impacting the distal long extensors of the hands and feet.
Isabel Carrascoso +4 more
semanticscholar +2 more sources