Results 161 to 170 of about 10,564 (213)

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features. [PDF]

Brain
Iruzubieta P, Damborenea A, Ioghen M, Bajew S, Fernandez-Torrón R, Töpf A, Herrero-Reiriz Á, Epure D, Vill K, Hernández-Laín A, Manterola M, Azkargorta M, Pikatza-Menoio O, Pérez-Fernandez L, García-Puga M, Gaina G, Bastian A, Streata I, Walter MC, Müller-Felber W, Thiele S, Moragón S, Bastida-Lertxundi N, López-Cortajarena A, Elortza F, Gereñu G, Alonso-Martin S, Straub V, de Sancho D, Teleanu R, López de Munain A, Blázquez L.   +31 more
europepmc   +1 more source

Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. [PDF]

Int J Mol Sci
Poudel BH, Fletcher S, Wilton SD, Aung-Htut M.   +3 more
europepmc   +1 more source

Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A. [PDF]

Front Genet
Feng W, Cao Y, Ren R, Yang X, Cao C, Jiang H, Du G.   +6 more
europepmc   +1 more source

Exploring MyomiRs Dysregulation in Limb Girdle Muscular Dystrophy D2

Cristiano Bertolucci, Raffaella Casadei, Giovanna Cenacchi, Flavia Frabetti, Giuseppe Sabbioni, Elia Gatto, Monica Borgatti, Serafina Pacilio, Maria Teresa Rodia, Roberta Costa, Giulia Breveglieri, Sara Lombardi, Matteo Bergonzoni, Maria Teresa Altieri, Martina Fazzina, Francesco Borgia   +15 more
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Limb Girdle Muscular Dystrophies

Neurologic Clinics, 2020
The limb girdle muscular dystrophies (LGMDs) are genetic muscle diseases with primary skeletal muscle involvement in persons with the ability to walk independently at some point in the disease course. They usually have increased creatine kinase levels along with patterns of fatty and fibrous deposition on muscle imaging and/or dystrophic features on ...
Jacob, Bockhorst, Matthew, Wicklund
  +12 more sources

The Limb-Girdle Muscular Dystrophies

Continuum, 2022
The limb-girdle muscular dystrophies (LGMDs) are a group of inherited muscle disorders with a common feature of limb-girdle pattern of weakness, caused by over 29 individual genes. This article describes the classification scheme, common subtypes, and the management of individuals with LGMD.Advances in genetic testing and next-generation sequencing ...
Nicholas E, Johnson, Jeffrey M, Statland
openaire   +2 more sources

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene [PDF]

Brain, 2013
In 2001, we reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but the identity of the mutant gene was elusive.
Maria Jesus Melia, Juan J Vílchez, Josep Gámez   +2 more
exaly   +2 more sources

The Limb-Girdle Muscular Dystrophies

Neurologic Clinics, 2014
A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-
Matthew P, Wicklund, John T, Kissel
openaire   +2 more sources