Update on the Genetics of Congenital Myopathies.
Sign Up to like & getrecommendations! Published in 2019 at "Seminars in pediatric neurology"
DOI: 10.1016/j.spen.2019.01.005
Abstract: The congenital myopathies form a large clinically and genetically heterogeneous group of disorders. Currently mutations in at least 27 different genes have been reported to cause a congenital myopathy, but the number is expected to… read more here.
Keywords: phenotype; congenital myopathies; genetics congenital; genetics ... See more keywords
Myoimaging in Congenital Myopathies.
Sign Up to like & getrecommendations! Published in 2019 at "Seminars in pediatric neurology"
DOI: 10.1016/j.spen.2019.03.019
Abstract: There is a great clinical and genetic heterogeneity in congenital myopathies. Myo-MRI with pattern recognition has become a first-line complementary tool in clinical practice for this group of diseases. For diagnostic purposes, whole-body imaging techniques… read more here.
Keywords: myoimaging congenital; myo mri; neurology; congenital myopathies ... See more keywords
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.1101/2022.09.26.509474
Abstract: Skeletal muscle is a highly structured and differentiated tissue responsible for voluntary movement and metabolic regulation. Muscles however, are heterogeneous and depending on their location, speed of contraction, fatiguability and function, can be broadly subdivided… read more here.
Keywords: quantitative proteomic; muscles wild; congenital myopathies; ryr1 ... See more keywords
Myopathology in congenital myopathies
Sign Up to like & getrecommendations! Published in 2017 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12369
Abstract: Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth… read more here.
Keywords: feature; muscle; congenital myopathies; gene ... See more keywords
Congenital myopathies in the adult neuromuscular clinic
Sign Up to like & getrecommendations! Published in 2019 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000341
Abstract: Objective To investigate the spectrum of undiagnosed congenital myopathies (CMs) in adults presenting to our neuromuscular clinic and to identify the pitfalls responsible for diagnostic delays. Methods We conducted a retrospective review of patients diagnosed… read more here.
Keywords: congenital myopathies; myopathies adult; adult neuromuscular; neuromuscular clinic ... See more keywords
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neuromuscular Diseases"
DOI: 10.3233/jnd-221543
Abstract: Background: Congenital myopathies are rare neuromuscular disorders presenting with a wide spectrum of clinical features, including long bone fractures (LBFs) that negatively influence functional prognosis, quality of life and survival. Systematic research on bone quality… read more here.
Keywords: quality; bone quality; congenital myopathies; scoping review ... See more keywords
Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.664618
Abstract: Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort of patients affected… read more here.
Keywords: findings neonatal; early findings; life; neonatal cases ... See more keywords
From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms21238935
Abstract: Muscular dystrophies are a group of more than 160 different human neuromuscular disorders characterized by a progressive deterioration of muscle mass and strength. The causes, symptoms, age of onset, severity, and progression vary depending on… read more here.
Keywords: mouse models; dystrophies congenital; congenital myopathies; potentials limitations ... See more keywords
Congenital myopathies: The current status
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Pathology and Microbiology"
DOI: 10.4103/ijpm.ijpm_1031_21
Abstract: Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by establishing the three… read more here.
Keywords: current status; microscopy; congenital myopathies; pathology ... See more keywords