MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]
IUBMB LifeABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
Breveglieri G +7 more
europepmc +2 more sources
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants. [PDF]
Mol Genet Genomic Med, 2023 Causative variants linked with LGMD in an Iranian population. Abstract Background Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes next‐generation ...
Mianesaz H +8 more
europepmc +2 more sources
Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. [PDF]
Hum MutatAbstract: Limb–girdle muscular dystrophy Type 2A/R1 or calpain‐3 deficiency is the most common autosomal recessive limb–girdle muscular dystrophy. However, in recent years, autosomal dominant cases and families with calpain‐3 deficiency have been reported, and there is an emerging interest in looking for single variants in the calpain‐3 gene in mildly ...
Krag T +8 more
europepmc +2 more sources
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
Human Mutation, 2004 Limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) is caused by mutations in the CAPN3 gene encoding for calpain-3, a muscle specific protease. While a large number of CAPN3 gene mutations have already been described in calpainopathy patients, the diagnosis has recently shifted from molecular genetics towards biochemical assay of defective protein.
Gabriele Siciliano +2 more
exaly +8 more sources
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients. [PDF]
PLoS ONE, 2014 Calpain-3 deficiency causes oxidative and nitrosative stress-induced damage in skeletal muscle of LGMD2A patients, but mitochondrial respiratory chain function and anti-oxidant levels have not been systematically assessed in this clinical population ...
Mats I Nilsson +9 more
doaj +4 more sources
Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region [PDF]
Italian Journal of PediatricsBackground Limb Girdle Muscular Dystrophy (LGMD) is a heterogeneous group of muscle diseases that are common in childhood. This study aimed to determine the clinical, histopathological, genetic features characteristics of among pediatric patients with ...
Duygu Güner Özcanyüz +7 more
doaj +2 more sources
Mitochondrial dysfunction and consequences in calpain-3-deficient muscle [PDF]
Skeletal Muscle, 2020 Background Nonsense or loss-of-function mutations in the non-lysosomal cysteine protease calpain-3 result in limb-girdle muscular dystrophy type 2A (LGMD2A).
Vanessa E. Jahnke +10 more
doaj +2 more sources
A case of LGMD2A (Calpainopathy) clinically presenting as Miyoshi distal myopathy
Clinical Neurology, 2008 We reported a 23-year-old woman with distal myopathy and highly elevated serum creatine kinase (CK) caused by calpainopathy. Although muscle weakness was not evident, a muscle CT scan revealed replacement by adipose tissue in the medial head of the gastrocnemius.
Ichizo Nishino
exaly +3 more sources
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle [PDF]
Skeletal MuscleBackground Human iPSC-derived 3D-tissue-engineered-skeletal muscles (3D-TESMs) offer advanced technology for disease modelling. However, due to the inherent genetic heterogeneity among human individuals, it is often difficult to distinguish disease ...
Stijn L. M. in ‘t Groen +5 more
doaj +2 more sources
Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy. [PDF]
Mol Ther, 2019 Limb girdle muscular dystrophy type 2A (LGMD2A), caused by mutations in the Calpain 3 (CAPN3) gene, is an incurable autosomal recessive disorder that results in muscle wasting and loss of ambulation. To test the feasibility of an autologous induced pluripotent stem cell (iPSC)-based therapy for LGMD2A, here we applied CRISPR-Cas9-mediated genome ...
Selvaraj S +9 more
europepmc +4 more sources