Results 71 to 80 of about 713 (148)

Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis

Skeletal Muscle, 2017
Background Previous studies in patients with limb-girdle muscular dystrophy type 2A (LGMD2A) have suggested that calpain-3 (CAPN3) mutations result in aberrant regeneration in muscle.
Mehmet E. Yalvac, Jakkrit Amornvit, Cilwyn Braganza, Lei Chen, Syed-Rehan A. Hussain, Kimberly M. Shontz, Chrystal L. Montgomery, Kevin M. Flanigan, Sarah Lewis, Zarife Sahenk   +9 more
doaj   +1 more source

The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy

Muscle &Nerve, Volume 69, Issue 4, Page 472-476, April 2024.
Abstract Introduction/Aims Limb‐girdle muscular dystrophy R1 (LGMDR1) calpain 3‐related usually presents as a recessively transmitted weakness of proximal limb‐girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4)
Andrea Valls, Gerardo Gutiérrez‐Gutiérrez, Agustín Martínez, Cristina Ruiz‐Roldán, Pilar Camaño, Adolfo López de Munain, Amets Sáenz   +6 more
wiley   +1 more source

The role of magnetic resonance imaging in diagnosing limb-girdle muscular dystrophy: a descriptive exploratory diagnostic study

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited neuromuscular disorders characterized by progressive weakness of the pelvic and shoulder girdle muscles.
Sara Mohamed Ihab, Khaled Abou Alfotouh Ahmed, Nagia Ali Fahmy, Samia Ashour Helal, Doaa Abdallah Elaidy   +4 more
doaj   +1 more source

Limb-girdle muscular dystrophy in Brazilian children: clinical, histological and molecular characterization

Arquivos de Neuro-Psiquiatria, 2014
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes.
Marco A. Veloso Albuquerque
doaj   +1 more source

Clinical variability in calpainopathy: What makes the difference?

Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders characterised by progressive weakness of the pelvic and shoulder girdle muscles and a great variability in clinical course. LGMD2A, the most prevalent form of LGMD, is
Anderson LVB; de Paula F; Vainzof M; Passos-Bueno MR; Pavanello R; Matioli SR; Nigro V; Zatz M
core   +5 more sources

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

, 2011
Calpainopathy (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophy. We performed a systematic clinical evaluation in 13 calpainopathy patients from 11 families, with particular attention to the pattern of muscle ...
Anderson, Louise V.B, Pogue, Robert Edward, Bushby, Katherine M.D., Davison, K., Pyle, Angela, Pollitt, C.   +5 more
core  

Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy) [PDF]

, 2016
Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (CAPN3) gene. Our previous data suggest that CAPN3 helps to maintain the integrity of the triad complex in skeletal muscle.
Armando, Aaron M, Ermolova, Natalia, Hevener, Andrea, Quehenberger, Oswald, Eskin, Ascia, Nelson, Stanley F, Kramerova, Irina, Haller, Ronald, Spencer, Melissa J, Romain, Nadine   +9 more
core   +1 more source

Refining the molecular characterization of calpainopathy (LGMD2A) patients

, 2011
Introduction: Mutations in the gene CAPN3 are responsible for calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A), one of the most frequent forms of LGMD.
Maia, Nuno, Vieira, Emília, Oliveira, Márcia E., Santos, Rosário   +3 more
core  

Function and muscle strength in Brazilian patients with calpainopathy

, 2019
Contextualização - A distrofia muscular de cinturas tipo 2A ou calpainopatia é uma desordem causada pelas mutações no gene CAPN3 (15q15.1) que codifica a calpaína.
Marim, Jéssica Gomes
core   +1 more source

Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis

Croatian medical journal, 2005
Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is one autosomal recessive muscular disorder caused by mutations in calpain3 (CAPN3) gene. We report results concerning LGMD2A obtained during 6-year long prospective and on going genetic and epidemiological study of muscular dystrophies in Croatia.
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