Results 111 to 120 of about 561,973 (252)

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]

, 2009
Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Kumar, Arvind, Taksande, AM, Vilhekar, KY   +2 more
core  

Clinical profiles associated with rapidly progressive interstitial lung disease in antisynthetase syndrome: A multicentric cohort study (TYPASS study)

Journal of Internal Medicine, Volume 299, Issue 3, Page 365-380, March 2026.
Abstract Objectives To assess factors associated with rapidly progressive interstitial lung disease (ILD) (RP‐ILD) at time of ILD diagnosis in a multicentric retrospective cohort study of antisynthetase syndrome (ASyS). We used a complementary unsupervised approach, hierarchical clustering, to delineate distinct phenotypes among ASyS patients with ILD.
Maxime Billotte, Thomas Moulinet, Alain Meyer, Houda Camara, Loïs Bolko, Kévin Didier, Sandra Dury, Bernard Bonnotte, Hervé Devilliers, Philippe Bonniaud, Guillaume Beltramo, Julien Campagne, Nadine Magy‐Bertrand, Aurore Chaudier, Simon Valentin, Roland Jaussaud, Paul Decker   +16 more
wiley   +1 more source

Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy [PDF]

, 2015
Spinal and bulbar muscular atrophy (SBMA) is characterized by loss of motoneurons and sensory neurons, accompanied by atrophy of muscle cells. SBMA is due to an androgen receptor containing a polyglutamine tract (ARpolyQ) that misfolds and aggregates ...
Aggarwal, Tanya, Cicardi, Maria Elena, Crippa, Valeria, Cristofani, Riccardo, Galbiati, Mariarita, Giorgetti, Elisa, Lieberman, Andrew P., Meroni, Marco, Messi, Elio, Milioto, Carmelo, Pennuto, Maria, Piccolella, Margherita, Polanco, Maria Josefa, Poletti, Angelo, Rocchi, Anna, Rusmini, Paola   +15 more
core   +2 more sources

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8

Acta Neuropathologica, 2017
Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot–Marie–Tooth disease, and recently distal myopathy.
D. Bouhy, M. Juneja, I. Katona, A. Holmgren, B. Asselbergh, Vicky de Winter, T. Hochepied, S. Goossens, J. Haigh, C. Libert, C. Ceuterick‐de Groote, J. Irobi, J. Weis, V. Timmerman   +13 more
semanticscholar   +1 more source

Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Nada Assaf, Jeanette El Hajj, Jana Doghman, Fatima Hussein, Simone Khalifeh   +4 more
wiley   +1 more source

Yunis Varon Syndrome [PDF]

, 2010
We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes ...
Dal, SI, Parmar, P
core   +1 more source

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy [PDF]

, 2016
Peer ...
Auranen, Mari, Kiuru-Enari, Sari, Kousi, Maria, Lamminen, Antti, Lehesjoki, Anna-Elina, Löfberg, Mervi, Mahjneh, Ibrahim, Muurinen , Tiina, Paetau, Anders, Piirilä, Päivi, Salmi, Tapani, Träskelin, Ann-Liz, Ylikallio, Emil   +12 more
core   +1 more source