CRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells [PDF]
Stem Cells International, 2023 Large numbers of Calpain 3 (CAPN3) mutations cause recessive forms of limb-girdle muscular dystrophy (LGMD2A/LGMDR1) with selective atrophy of the proximal limb muscles.
Lampros Mavrommatis +9 more
doaj +5 more sources
Genetic Counseling and NGS Screening for Recessive LGMD2A Families [PDF]
High-Throughput, 2020 Genetic counseling applied to limb–girdle muscular dystrophies (LGMDs) can be very challenging due to their clinical and genetic heterogeneity and the availability of different molecular assays. Genetic counseling should therefore be addressed to select the most suitable approach to increase the diagnostic rate and provide an accurate estimation of ...
Claudia Strafella +2 more
exaly +10 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.
M Fanin +2 more
exaly +10 more sources
Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Limb–girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. Subtype 2A (LGMD2A) also known as “calpainopathy” is an inherited autosomal recessive gene defect.
Silvio Quick +8 more
doaj +3 more sources
Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1 [PDF]
Molecular Therapy - Methods and 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 +2 more
exaly +5 more sources
Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A [PDF]
Frontiers in GeneticsLimb-girdle muscular dystrophy type 2A (LGMD R1 Calpain 3-Related, LGMD2A/R1), an autosomal recessive disorder, is characterized by progressive muscle weakness with a prominent presentation in the proximal limb girdle muscles.
Wanjun Feng +6 more
doaj +4 more sources
Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy [PDF]
Molecular Therapy, 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 ...
Sridhar Selvaraj +2 more
exaly +5 more sources
Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels [PDF]
Frontiers in Cell and Developmental Biology, 2022 In vitro models of patient-derived muscle allow for more efficient development of genetic medicines for the muscular dystrophies, which often present mutation-specific pathologies.
Florian Barthélémy +14 more
doaj +2 more sources
Quantitative Muscle MRI in Patients with Neuromuscular Diseases—Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region [PDF]
Diagnostics, 2021 (1) Background and Purpose: The skeletal muscles of patients suffering from neuromuscular diseases (NMD) are affected by atrophy, hypertrophy, fatty infiltration, and edematous changes.
Sarah Schlaeger +14 more
doaj +2 more sources
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis.
Feng Lin +11 more
doaj +2 more sources