GYG1: A distal myopathy with polyglucosan bodies [PDF]
JIMD Reports, 2020 Mutations in glycogenin‐1 (GYG1) cause an adult‐onset polyglucosan body myopathy. We report here a patient presenting with late‐onset distal myopathy. We wish to highlight this rare clinical phenotype of GYG1‐related myopathy and the histological clues ...
Stefan Nicolau +4 more
doaj +3 more sources
First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease [PDF]
Frontiers in Neurology, 2021 Mutations in the MATR3 gene are associated to distal myopathy with vocal cord and pharyngeal weakness (VCPDM), as well as familiar and sporadic motor neuron disease.
Michele Cavalli +5 more
doaj +3 more sources
Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region.
Meng Yu +6 more
doaj +3 more sources
RYR1 causing distal myopathy [PDF]
Molecular Genetics & Genomic Medicine, 2017 AbstractBackgroundCongenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness ...
Ruple S. Laughlin +3 more
semanticscholar +4 more sources
Dominant collagen XII mutations cause a distal myopathy [PDF]
Annals of Clinical and Translational Neurology, 2019 Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1.
Payam Mohassel +21 more
doaj +3 more sources
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis [PDF]
Brain, 2023 TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non ...
Julia Zibold +28 more
semanticscholar +2 more sources
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions [PDF]
Acta Neuropathol, 2021 Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene.
M. Johari +25 more
semanticscholar +2 more sources
GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy
Annals of Clinical and Translational Neurology, 2021 Background The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy.
Jiaxi Yu +20 more
doaj +2 more sources
A novel in‐frame deletion in MYOT causes an early adult onset distal myopathy
Clinical Genetics, 2023 Missense mutations in MYOT encoding the sarcomeric Z‐disk protein myotilin cause three main myopathic phenotypes including proximal limb‐girdle muscular dystrophy, spheroid body myopathy, and late‐onset distal myopathy.
V. Guglielmi +14 more
semanticscholar +1 more source
Treatment of severe equinovarus deformity associated with distal myopathy
Foot & Ankle Surgery: Techniques, Reports & Cases, 2023 Inclusion body myopathy (IBM) is a form of distal myopathy which is characterized by progressive muscle weakness and wasting.1 A healthy 23-year-old male with unremarkable past medical history presented with left ankle pain and contracture of ...
Caleb Thomas, DPM +2 more
doaj +1 more source