Results 41 to 50 of about 841 (164)

Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis — A cross sectional survey

Molecular Genetics and Metabolism Reports, 2014
Background: The risk of osteoporosis is known in myopathies requiring long-term steroid treatment and Pompe disease, but not in other hereditary myopathies or sporadic inclusion body myositis (sIBM).
F. Danckworth, N. Karabul, A. Posa, F. Hanisch   +3 more
doaj   +1 more source

Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach

European Journal of Neurology, Volume 27, Issue 1, Page 51-61, January 2020., 2020
Background and purpose Next‐generation sequencing has greatly improved the diagnostic success rates for genetic neuromuscular disorders (NMDs). Nevertheless, most patients still remain undiagnosed, and there is a need to maximize the diagnostic yield.
M. Krenn, M. Tomschik, J. Rath, H. Cetin, A. Grisold, G. Zulehner, I. Milenkovic, E. Stogmann, A. Zimprich, T. M. Strom, T. Meitinger, M. Wagner, F. Zimprich   +12 more
wiley   +1 more source

Neurotrophins, cytokines, oxidative parameters and funcionality in Progressive Muscular Dystrophies

Anais da Academia Brasileira de Ciências, 2015
We investigated the levels of brain derived-neurotrophic factor (BDNF), cytokines and oxidative parameters in serum and tried to correlate them with the age and functionality of patients with Progressive Muscle Dystrophies (PMD).
CLARISSA M. COMIM, GISIANE B. MATHIA, ANDREZA HOEPERS, LISIANE TUON, FLÁVIO KAPCZINSKI, FELIPE DAL-PIZZOL, JOÃO QUEVEDO, MARIA I. ROSA   +7 more
doaj   +1 more source

Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression [PDF]

The American Journal of Pathology, 2003
The diagnosis of limb girdle muscular dystrophy (LGMD) type 2A (due to mutations in the gene encoding for calpain-3) is currently based on protein analysis, but mutant patients with normal protein expression have also been identified. In this study we investigated 150 LGMD patients with normal calpain-3 protein expression, identified gene mutations by ...
FANIN, MARINA, NASCIMBENI, ANNA CHIARA, FULIZIO, LUIGI, TREVISAN, CARLO PIETRO, MEZNARIC PETRUSA M, ANGELINI, CORRADO   +5 more
openaire   +3 more sources

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

Frontiers in Neurology, 2019
The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders. In this setting, NGS panels are highly recommended to perform differential diagnosis, identify new
Claudia Strafella, Claudia Strafella, Giulia Campoli, Rosaria Maria Galota, Valerio Caputo, Valerio Caputo, Giulia Pagliaroli, Stefania Carboni, Stefania Zampatti, Cristina Peconi, Julia Mela, Cristina Sancricca, Cristina Sancricca, Guido Primiano, Giulietta Minozzi, Serenella Servidei, Raffaella Cascella, Raffaella Cascella, Emiliano Giardina, Emiliano Giardina   +19 more
doaj   +1 more source

A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy

Cell Reports Medicine, 2020
Summary: Mutations in CAPN3 cause limb girdle muscular dystrophy R1 (LGMDR1, formerly LGMD2A) and lead to progressive and debilitating muscle wasting. Calpain 3 deficiency is associated with impaired CaMKIIβ signaling and blunted transcriptional programs
Jian Liu, Jesus Campagna, Varghese John, Robert Damoiseaux, Ekaterina Mokhonova, Diana Becerra, Huan Meng, Elizabeth M. McNally, April D. Pyle, Irina Kramerova, Melissa J. Spencer   +10 more
doaj   +1 more source

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

Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism? [PDF]

Brain, 2016
Sir, We thank Drs Saenz and Lopez de Munain for their interest in our recently published paper describing a dominant transmission of calpainopathy associated with a muscle disease, resembling limb girdle muscular dystrophy type 2A (LGMD2A) (Vissing et al. , 2016).
Vissing, John, Duno, Morten
openaire   +3 more sources

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. [PDF]

PLoS ONE, 2017
This study aimed to study the diagnostic value of targeted next-generation sequencing (NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the mutational spectrum of Chinese LGMD patients. We performed targeted NGS covering 420 genes in 180
Meng Yu, Yiming Zheng, Suqin Jin, Qiang Gang, Qingqing Wang, Peng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang   +9 more
doaj   +1 more source

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

BMC Musculoskeletal Disorders, 2012
Background Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutations in the CAPN3 gene and complete lack of functional calpain 3 leads to the most severe muscle wasting.
Hauerslev Simon, Sveen Marie-Louise, Duno Morten, Angelini Corrado, Vissing John, Krag Thomas O   +5 more
doaj   +1 more source