Disease: Benign autosomal dominant myopathy
- 2 families with benign myopathy predominantly on the limb girdle with dominant autosomal heredity
- A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
- A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date
- A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H
- A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient
- A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
- A Novel Variant of COL6A2 Gene Causing Bethlem Myopathy and Evaluation of Essential Hypertension
- A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
- A Rare Co-Existence of Multiple Cerebral Cavernous Malformations and Pleomorphic Adenoma of the Parotid Gland in Myotonic Dystrophy
- A woman in her fifties with chronic muscle weakness
- Ablation of collagen VI leads to the release of platelets with altered function
- Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature
- Adult-onset SMALED2 due to a novel <em>BICD2</em> mutation presenting with asymmetrical lower limb involvement
- Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation
- Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
- Atypical keratosis pilaris-like lesions in a patient with Bethlem myopathy
- Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family
- Autosomal dominant Ullrich congenital muscular dystrophy due to a <em>de novo</em> mutation in <em>COL6A3</em> gene. A case report
- Benign congenital muscular dystrophy with autosomal dominant heredity: problems of classification
- Benign muscular dystrophy with autosomal dominant inheritance
- Benign muscular dystrophy with contractures: a new syndrome?
- Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course
- Bethlem myopathy in a Taiwanese family
- Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
- Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis
- Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families
- Bethlem myopathy: when the phenotype is misleading
- Cardiovascular manifestations of myotonic dystrophy-1
- Causative variant profile of collagen VI-related dystrophy in Japan
- Central core disease. Report of 2 cases in adults
- Central core disease. Study of a family with five affected generations
- Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy
- ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence
- Clinical and biopsy-based myopathological features of 5 cases with centronuclear myopathy
- Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene
- Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
- Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies
- Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy
- Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction
- Collagen VI in the Musculoskeletal System
- Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy
- Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
- Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study
- Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family
- Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes
- Cytogenetic studies in Dupuytren contracture
- Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation
- Early onset muscular dystrophy with autosomal dominant heredity. Report of a family and CT findings of skeletal muscle
- Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy)
- Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy) in a Japanese family
- Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy)
- Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes
- Familial benign nonprogressive myoclonic epilepsies
- Fatal Retroperitoneal Bleeding in Neurofibromatosis Type 1: A Clinically Occult Complication
- Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset?
- Fibrodysplasia ossificans progressiva (FOP) presenting as a rapidly growing non-calcified neck mass
- Frequency of hereditary neurologic diseases. A clinical study
- Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy
- Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey
- Hereditary benign telangiectasia: a case report
- Hereditary tendo Achillis contractures
- History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world
- Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
- Hypothesis: neoplasms in myotonic dystrophy
- Ictal aphasia in <em>LGI1</em>-related autosomal dominant epilepsy with auditory features
- Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2
- Infantile autosomal dominant distal myopathy
- Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort
- Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis
- LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism
- Limb girdle muscular dystrophy with autosomal dominant inheritance
- Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation
- Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study
- Minicore myopathy with dominant inheritance
- Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
- Myotonia congenita
- Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma
- New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients
- New insights into central nervous system involvement in FOP: Case report and review of the literature
- Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva
- Oculopharyngeal muscle dystrophy. Genetic diagnosis in a family in Germany
- P1-35: A case of chronic type II respiratory failure due to Bethlem myopathy
- Pathogenic variants in <em>IMPG1</em> cause autosomal dominant and autosomal recessive retinitis pigmentosa
- Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs
- Personalized <em>in vitro</em> Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies
- Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features
- Phenotypic variability and molecular genetics in proximal myotonic myopathy
- Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts
- Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva
- Rippling muscle disease: a review
- Scapuloperoneal myopathy
- Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality
- Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations
- The critical role of collagen VI in lung development and chronic lung disease
- Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy
- Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity
- Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy
- Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2