Disease: Limb-girdle muscular dystrophy autosomal dominant
- 'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D
- <em>SGCD</em> Homozygous Nonsense Mutation (p.Arg97<sup>∗</sup>) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report
- A Case of a Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a de novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3
- A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene
- A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
- A family with 2 different hereditary diseases leading to early cardiac involvement
- A family with limb girdle muscular dystrophy type 1B and multiple exostoses
- A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block
- A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
- A new family with transportinopathy: increased clinical heterogeneity
- A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
- A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
- A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F
- A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort
- Abdominal wall muscle fatty replacement and enlargement in autosomal dominant calpainopathy-3
- Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review
- Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
- Assessment of the quality of life in patients with LGMD. The case of transportinopathy
- Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21
- Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
- Calpainopathies: state of the art and therapeutic perspectives
- Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies
- Caveolin 3 suppresses phosphorylation-dependent activation of sarcolemmal nNOS
- Caveolinopathies in Greece
- Characteristics of VCP mutation-associated cardiomyopathy
- Clinical and genetic features of limb-girdle muscular dystrophy type 1B: a case report
- Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies
- Clinical phenotype, muscle MRI and muscle pathology of LGMD1F
- Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report
- Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A
- Collagen type VI myopathies
- CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2
- Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum
- DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones
- DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies
- DNAJB6 myopathy: a vacuolar myopathy with childhood onset
- Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy
- Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
- Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
- Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms
- Genetic basis of limb-girdle muscular dystrophies: the 2014 update
- Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy
- Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
- Hereditary inclusion-body myopathies
- Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families
- HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
- Identification and functional characterization of a novel heterozygous splice-site mutation in the calpain 3 gene causes rare autosomal dominant limb-girdle muscular dystrophy
- Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy
- Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
- Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis
- Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
- Increasing Role of Titin Mutations in Neuromuscular Disorders
- Inhibition of autophagy rescues muscle atrophy in a LGMDD2 Drosophila model
- Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth
- Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion
- LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism
- LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
- Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation
- Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation
- LMNA-associated myopathies: the Italian experience in a large cohort of patients
- Making sense of the clinical spectrum of limb girdle muscular dystrophies
- Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
- Muscle pathology in 31 patients with calpain 3 gene mutations
- Muscular Dystrophy
- Muscular Dystrophy
- Mutation update: The spectra of PLEC sequence variants and related plectinopathies
- Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
- Myopathies with finger flexor weakness: Not only inclusion-body myositis
- Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction
- Neuronal-specific overexpression of a mutant valosin-containing protein associated with IBMPFD promotes aberrant ubiquitin and TDP-43 accumulation and cognitive dysfunction in transgenic mice
- Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
- Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
- Novel CAPN3 variant associated with an autosomal dominant calpainopathy
- Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy
- Novel recessive myotilin mutation causes severe myofibrillar myopathy
- Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy
- Progressive muscular dystrophies
- Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy
- Rare disease clinical trials: Power in numbers
- Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
- Respiratory muscle involvement in <em>HNRNPDL</em> LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
- Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
- Revised Genetic Classification of Limb Girdle Muscular Dystrophies
- Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review
- SGCD Homozygous Nonsense Mutation (p.Arg97()) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report
- Somatic and germinal mosaicism in a Han Chinese family with laminopathies
- The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy
- The caveolin-3 P104L mutation in LGMD-1C patients inhibits non-insulin-stimulated glucose metabolism and growth but promotes myocyte proliferation
- The Caveolin-3 P104L mutation of LGMD-1C leads to disordered glucose metabolism in muscle cells
- The Influence of a Genetic Variant in <em>CCDC78</em> on <em>LMNA</em>-Associated Skeletal Muscle Disease
- The Limb-Girdle Muscular Dystrophies
- The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?
- Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene
- Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function
- Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations
- Untangling the complexity of limb-girdle muscular dystrophies
- Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants
- What is in the Myopathy Literature?