Results 1 to 10 of about 283,904 (179)

Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy [PDF]

Cells, 2018
LMNA linked-Emery-Dreifuss muscular dystrophy (EDMD2) is a rare disease characterized by muscle weakness, muscle wasting, and cardiomyopathy with conduction defects.
Elisa Schena, Elisabetta Mattioli, Marta Columbaro   +2 more
exaly   +6 more sources

Disruption of Nuclear‐Cytoskeletal Linkage by Coil‐1a LMNA Mutations in Emery–Dreifuss Muscular Dystrophy [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background Emery–Dreifuss muscular dystrophy (EDMD) is a progressive genetic myopathy that mainly affects the muscles used for movement (skeletal muscles) and the heart (cardiac muscles).
So‐mi Kang, Ran Kim, Tae‐Gyun Woo, Soyoung Park, Yeongseon Ji, Ha Eun Kim, Yu Jin Jeong, Jeongmo Kim, Yeonhee Kim, Woochul Chang, Bae‐Hoon Kim, Bum‐Joon Park   +11 more
doaj   +3 more sources

A Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting during infancy with persistent transaminitis [PDF]

BMC Pediatrics
Background Emery-Dreifuss muscular dystrophy is a rare muscular dystrophy characterised by muscle weakness, joint contractures, and cardiac involvement.
Sachith Mettananda, Thakshila Vipulanayake, Gihani Dineshika, Tharindi Suriapperuma, Manissha Rajeindran, Padmapani Padeniya   +5 more
doaj   +2 more sources

Current Topics of Progressive Cardiac Conduction Disease. [PDF]

J Arrhythm
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Sumitomo N, Mori H, Kumamoto T, Ishikawa T, Seki A, Makita N, Schott JJ, Wilde AAM.   +7 more
europepmc   +2 more sources

X-linked Emery–Dreifuss muscular dystrophy caused by a novel mutation: A case report [PDF]

Journal of International Medical Research
This study characterizes a multigenerational family with X-linked Emery–Dreifuss muscular dystrophy associated with a novel FHL1 mutation (c.746G>A, p.Cys249Tyr). Among 21 family members, 5 were affected and 3 had died. The affected individuals exhibited
Haimei Zhang, Siming Tang, Wei Zhang, Wei Wang, Wei Tang   +4 more
doaj   +2 more sources

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +2 more sources

A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies. [PDF]

Brain Pathol
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Pauper M, Kölbel H, Karakesisoglou I, Schänzer A, Böhm J, Thompson R, Kohlschmidt N, Ringel B, Bonne G, Neuhoff K, Gangfuß A, Kilicarslan OA, Agullo SB, Hentschel A, Schara-Schmidt U, Lochmüller H, Polavarapu K, Roos A.   +17 more
europepmc   +2 more sources

Emerin is necessary for microtubule-organizing center translocation to the nuclear envelope of muscle cells [PDF]

Cell Death and Disease
During myogenic differentiation, the Microtubule-Organizing Center (MTOC) is relocated to the nuclear envelope by a molecular platform including Linker of Nucleoskeleton and Cytoskeleton (LINC) complex proteins, A Kinase Anchoring Proteins (AKAP9 and ...
Elisabetta Mattioli, Vittoria Cenni, Patrizia Sabatelli, Elisa Schena, Spartaco Santi, Chiara Fiorillo, Claudio Bruno, Antonella Pini, Melania Giannotta, Marco Cavallo, Costantino Errani, Eleonora Cattin, Daniela Benati, Alessandra Recchia, Giovanna Lattanzi   +14 more
doaj   +2 more sources

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics. [PDF]

Hum Mutat
Background Mutations in the LMNA gene underlie a broad spectrum of laminopathies, including muscular dystrophies, cardiomyopathies, and premature aging syndromes; however, the molecular mechanisms by which missense variants disrupt Lamin A structural integrity remain incompletely characterized.
Aktaş E, Nizamoğlu C, Ventura S.
europepmc   +2 more sources

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Shimazaki R, Noguchi S, Takizawa H, Oya Y, Takahashi Y, Komaki H, Arahata H, Hayashi S, Nishino I.   +8 more
europepmc   +2 more sources