Research By Disease – CheckOrphan

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 BICD2 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 de novo mutation in COL6A3 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 LGI1-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 IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs
Personalized in vitro 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