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
Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies. [PDF]
J Cachexia Sarcopenia Muscle, 2023 Abstract Background Decreased ryanodine receptor type 1 (RyR1) protein levels are a well‐described feature of recessive RYR1‐related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies and (2) to investigate the mechanisms by which decreased RyR1 protein triggers muscular ...
Vidal J +10 more
europepmc +2 more sources
Two autosomal recessive neuromuscular disorders - FRDA and LGMD2A, in a single Bulgarian pedigree
Scripta Scientifica Medica, 2015 Here we report a single pedigree affected by two different recessive neuromuscular disorders, namely Friedreich ataxia (FRDA) and Limb-Girdle Muscular Dystrophy Type 2A. The molecular genetic testing showed that in this family FRDA is caused by an expanded GAA repeat in compound heterozygous state with a novel point mutation c.442C>T, p.Gln148* on the ...
Savina Tincheva +3 more
openaire +4 more sources
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. [PDF]
Mol Genet Genomic MedAll the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Karthikeyan P +3 more
europepmc +2 more sources
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
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
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
Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.
Croatian medical journal, 2005 To determine types and frequency of CAPN3 mutations in 29 unrelated Croatian families, analyzed during 6-year prospective and ongoing genetic and epidemiological study of muscular dystrophies in Croatia.Mutation analysis included allele-specific polymerase chain reaction (PCR) or combination of PCR and restriction fragment length polymorphisms (RFLP ...
Milić, Astrid, Canki-Klain, Nina
openaire +5 more sources
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies
Annals of Clinical and Translational Neurology, Volume 10, Issue 11, Page 2092-2104, November 2023., 2023 Abstract Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence‐based multi‐gene panel (“The Lantern Focused Neuromuscular Panel”) to detect both sequence variants and
Babi R. R. Nallamilli +8 more
wiley +1 more source
The role of microRNAs in muscle wasting and recovery during critical illness: a systematic review
JCSM Rapid Communications, Volume 6, Issue 2, Page 68-80, July/December 2023., 2023 Abstract Introduction Critical illness associated with intensive care unit (ICU) admission often results in persistent skeletal muscle wasting and may lead to frailty in older and patients with multi‐morbidity. Early recognition of patients at high‐risk of long‐term complications could provide opportunities to minimize the impact of critical illness ...
Maria Borja‐Gonzalez +10 more
wiley +1 more source