Results 21 to 30 of about 207 (93)

Limb-girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies. [PDF]

Muscle Nerve
Abstract Limb‐girdle muscular dystrophies (LGMDs) constitute a diverse group of inherited disorders primarily affecting skeletal muscle. Despite the absence of cures, rehabilitative treatments offer potential for preventing and mitigating loss of muscle strength. However, the role of exercise training in LGMD patients remains contentious.
D'Este G, Spagna M, Federico S, Cacciante L, Cieślik B, Kiper P, Barresi R.   +6 more
europepmc   +2 more sources

Fractures in Hereditary Neuromuscular Disorders: Frequency, Risk Factors, and Implications. [PDF]

Eur J Neurol
ABSTRACT Background Hereditary neuromuscular disorders (NMD) are associated with compromised bone health and elevated fracture risk, though data are largely lacking. Objective This study aimed to assess the prevalence and risk factors of fractures in hereditary NMD.
Opsomer M, Iterbeke L, Borghs H, De Cuyper T, Dejaeger M, Dupont P, Claeys KG.   +6 more
europepmc   +2 more sources

Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study [PDF]

BMC Neurology
Background The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations.
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium   +11 more
doaj   +2 more sources

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

Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients

Frontiers in Neuroscience, 2021
Limb–girdle muscular dystrophy type R1 (LGMDR1) is caused by mutations in CAPN3 and is the most common type of recessive LGMD. Even with the use of whole-exome sequencing (WES), only one mutant allele of CAPN3 is found in a significant number of LGMDR ...
Anna Macias, Jakub Piotr Fichna, Malgorzata Topolewska, Maria J. Rȩdowicz, Anna M. Kaminska, Anna Kostera-Pruszczyk   +5 more
doaj   +1 more source

Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degeneration. Frizzled related protein
Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories, Amets Sáenz   +8 more
doaj   +1 more source

Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1

Molecular Therapy: Methods & Clinical Development, 2021
Limb girdle muscular dystrophy (LGMD) 2A/R1, caused by mutations in the CAPN3 gene and CAPN3 loss of function, is known to play a role in disease pathogenicity.
Zarife Sahenk, Burcak Ozes, Darren Murrey, Morgan Myers, Kyle Moss, Mehmet E. Yalvac, Alicia Ridgley, Lei Chen, Jerry R. Mendell   +8 more
doaj   +1 more source

Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb‐Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene

Human Mutation, Volume 2023, Issue 1, 2023., 2023
The sarcoglycanopathies are autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding the α, β, γ, and δ proteins which stabilizes the sarcolemma of muscle cells. The clinical phenotype is characterized by progressive proximal muscle weakness with childhood onset.
V. Manjunath, S. G. Thenral, B. R. Lakshmi, Atchayaram Nalini, A. Bassi, K. Priya Karthikeyan, K. Piyusha, R. Menon, A. Malhotra, L. S. Praveena, R. M. Anjanappa, S. M. Sakthivel Murugan, Kiran Polavarapu, Mainak Bardhan, V. Preethish-Kumar, Seena Vengalil, Saraswati Nashi, S. Sanga, M. Acharya, R. Raju, V. R. Pai, V. L. Ramprasad, R. Gupta, William Oetting   +23 more
wiley   +1 more source

Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium study

Neuromuscular Disorders
Matthew Wicklund, Nikia Stinson
exaly   +2 more sources

LGMDR1 with Prominent Limb–Joint Contractures and Inflammatory Changes Misdiagnosed as Scleromyositis with a Novel CAPN3 Mutation: A Case Report

US Neurology, 2023
Muscle diseases with prominent limb–joint contractures (LJCs) are a subgroup of rare neuromuscular disorders. Prominent LJCs are not specific to genetic myopathies. Myositis can also induce severe contractures, especially in the late stages. We report the case of a 12-year-old girl with a 3-year history of painful muscular weakness with generalized ...
Ilhem Ben Youssef-Turki, Ichraf Kraoua, Alexandre Reymond, Hedia Klaa, Imen Habibi, Thouraya Ben Younes, Emna Farhat, Hanene Benrhouma, Youssef Abida   +8 more
openaire   +1 more source