Results 11 to 20 of about 1,422 (160)

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. [PDF]

Neuropathol Appl Neurobiol
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Caramizaru A, Onnée M, Nikitin S, Dobrescu A, Severa G, Murtazina A, Urtizberea A, Lefaucheur JP, Carlier RY, Metay C, Malfatti E.   +10 more
europepmc   +2 more sources

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy. [PDF]

Eur J Neurol
ABSTRACT Background Monoclonal gammopathy‐associated myopathies (MGAMs) include light chain (AL) amyloid myopathy, sporadic late‐onset nemaline myopathy (SLONM), and vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS). These subtypes usually occur separately, although rare overlap has been described. We report a patient with monoclonal
Jones FJS, Cheema I, Laughlin RS, Muchtar E, Liewluck T.   +4 more
europepmc   +2 more sources

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +2 more sources

OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]

Eur J Clin Invest
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
du Preez MJ, Schoonen M, Williams ME, Bisschoff M, van der Westhuizen FH.   +4 more
europepmc   +2 more sources

Genetic and Structural Variations in Czech Patients With Congenital Myopathies. [PDF]

Clin Genet
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Zídková J, Lauerová B, Mensová L, Kramářová T, Kopčilová J, Réblová K, Soukup Vodičková M, Hujňáková M, Haberlová J, Rohlenová M, Mazanec R, Šoukalová J, Gaillyová R, Vyhnálková E, Balaščaková M, Danhofer P, Juříková L, Grečmalová D, Gřegořová A, Plevová P, Langová M, Honzík T, Magner M, Klincová M, Solařová P, Šenkeříková M, Fajkusová L.   +26 more
europepmc   +2 more sources

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

Frontiers in Genetics, 2023
NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c ...
Yuefang Liu, Juan Xu, Qiaoyi Lv, Zhe Liang, Lingling Li, Qiong Pan   +5 more
doaj   +1 more source

In Memoriam: W. King Engel, MD (1930–2025) [PDF]

Ann Neurol
Annals of Neurology, Volume 99, Issue 3, Page 563-565, March 2026.
Dalakas M, Ringel S.
europepmc   +2 more sources

Mechanistic Insights Into NFIX-Mediated DNA Recognition and Transcriptional Regulation in Skeletal Muscle. [PDF]

Smart Med
An atomic view of the NFIX–DNA complex reveals recognition of the TGGCA motif and links sequence‐specific binding to the transcriptional programs governing skeletal muscle development and disease. ABSTRACT Skeletal muscle is essential for voluntary movement and exhibits a remarkable capacity for regeneration following injury.
Zhu C, Liu S, Chen X, Qin C, Wang Y, Xue C, Li L, Du W, Chen X, Li X, Shen J, Song H.   +11 more
europepmc   +2 more sources

Miopatías congénitas

Revista Médica Clínica Las Condes, 2018
: Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
doaj   +1 more source

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies

Annals of Clinical and Translational Neurology, 2023
Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy   +7 more
doaj   +1 more source