Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility [PDF]
Brain Sciences, 2023 Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in STAC3, which encodes an important protein necessary for the
Gustavo Rodrigues Ferreira Gomes +7 more
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A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy [PDF]
Frontiers in Neurology, 2021 Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Kun Huang +3 more
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FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis [PDF]
EMBO Molecular MedicineCongenital ptosis, a genetic disorder involving levator palpebrae muscle dysfunction, is often associated with congenital myopathy. The genetic causes of this condition remain poorly understood.
Peixuan Wu +13 more
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SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review [PDF]
HeliyonSCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of ...
Tina Yee-Ching Chan +5 more
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Congenital Inflammatory Myopathy
Pediatric Neurology Briefs, 1990 Three patients with congenital inflammatory myopathy are reported from the Montreal Children's Hospital and Neurological Institute McGill University, Montreal, Canada. Seven additional cases are reviewed from the literature.
J Gordon Millichap
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Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations [PDF]
Genome MedicineBackground Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical management ...
Yvan de Feraudy +9 more
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STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia [PDF]
Arquivos de Neuro-PsiquiatriaSTAC3 gene congenital myopathy and malignant hyperthermia (MH) represent an important crossroads between neurology and anesthesia, where the prompt recognition of the clinical characteristics, and the collaboration between neurologists and ...
Mary Santos Silva +9 more
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CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES [PDF]
Neuromuscular Disorders, 2021 V. Lehtokari +5 more
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Corrigendum: A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy [PDF]
Frontiers in Neurology, 2022 Kun Huang +3 more
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Two novel mutations in TTN of a patient with congenital myopathy: A case report [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background Early‐onset myopathies show a wide spectrum of phenotypes and are composed of various types of inherited neuromuscular diseases, making it difficult to diagnose. TTN mutation‐related myopathy is a known cause of early‐onset myopathy.
Joon Young Jang +4 more
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