Results 11 to 20 of about 7,593 (207)

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

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Wilks AW, Chahin N.
europepmc   +2 more sources

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Arquivos de Neuro-Psiquiatria, 2014
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier Neto, Reinaldo Issao Takata, Antonio Pedro Vargas   +10 more
doaj   +1 more source

An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy

Muscles, 2023
Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding muscle proteins that are defective for heterozygous and homozygous mutations prevalent in certain regions.
Naoufel Chabbi, Corrado Angelini, Alicia Aurora Rodriguez   +2 more
doaj   +1 more source

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan [PDF]

, 2003
Cataloged from PDF version of article.The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Atalay, R. C., Balci, B., Brockington, M., Dincel, D., Dincer, P., Gerceker, F. O., Haliloglu, G., Kale, G., Longman, C., Muntoni, F., Sue, B. B., Talim, B., Topaloglu, H., Torelli, S., Y. Yuva, Yakicier, C.   +15 more
core   +1 more source

Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration

Frontiers in Pediatrics, 2021
ISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes and ...
Haiyan Yang, Fang Cai, Hongmei Liao, Siyi Gan, Ting Xiao, Liwen Wu   +5 more
doaj   +1 more source

Elevated Risk of Endometrial Cancer and Precursor Lesions in Patients With Myotonic Dystrophy: A Retrospective Study at a Single Institution in Japan. [PDF]

J Obstet Gynaecol Res
ABSTRACT Aim Myotonic dystrophy (MD) has been associated with an increased risk of endometrial cancer (EC) in Western countries; however, data from Japan are limited. This study aimed to evaluate the incidence and clinical characteristics of EC and its precursor lesion, atypical endometrial hyperplasia (AEH), in Japanese patients with MD.
Hano R, Ando H, Fujioka M, Nakajima M, Shinagawa M, Takeuchi H, Shinagawa M, Kobara H, Yoshinaga T, Miyamoto T.   +9 more
europepmc   +2 more sources

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies

Acta Neuropathologica Communications, 2022
The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory myopathies.
Nicole Becker, Steven A. Moore, Karra A. Jones   +2 more
doaj   +1 more source

A Poglut1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss [PDF]

, 2016
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limbgirdle muscular dystrophy, we identified a missense mutation in ...
Cabrera Serrano, Macarena, Fernández-Chacón, Rafael, Gómez-Sánchez, Leonardo, Nieto González, José Luis, Rivero, María C, Servián Morilla, Emilia   +5 more
core   +1 more source