ArticleAmerican journal of human genetics1996
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.
- Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.Journal of neuromuscular diseases · 2022Pooled it
- Generation of a novel Dysferlin microdeletion knock-in mouse model mimicking muscular dystrophy-like pathology.Scientific reports · 2026Article
- Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression.CNS neuroscience & therapeutics · 2024Article
- Article
- The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.Biomolecules · 2024Review
- Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.Journal of musculoskeletal & neuronal interactions · 2021Article
- The expanding spectrum of neurological disorders of phosphoinositide metabolism.Disease models & mechanisms · 2019Review
- Atypical Miyoshi distal myopathy: A case report.Experimental and therapeutic medicine · 2016Article
- Heterogeneous characteristics of Korean patients with dysferlinopathy.Journal of Korean medical science · 2012Article
- Dysferlinopathy course and sportive activity: clues for possible treatment.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2011Article
- Novel diagnostic features of dysferlinopathies.Muscle & nerve · 2010Article
- A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.American journal of human genetics · 2004Article
- Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B.Journal of Korean medical science · 2004Article
- Limb-girdle muscular dystrophy.Current neurology and neuroscience reports · 2003Review
- A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.American journal of human genetics · 2002Article
- Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.American journal of human genetics · 2000Article
- Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.American journal of human genetics · 1998Article
- Assignment of the tibial muscular dystrophy locus to chromosome 2q31.American journal of human genetics · 1998Article
- The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.American journal of human genetics · 1997Article
- The Réunion paradox and the digenic model.American journal of human genetics · 1996Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the results of our investigations of a large, inbred, aboriginal Canadian kindred with nine muscular dystrophy patients. The ancestry of all but two of the carrier parents could be traced to a founder couple, seven generations back. Seven patients presented with proximal myopathy consistent with limb girdle-type muscular dystrophy (LGMD), whereas two patients manifested predominantly distal wasting and weakness consistent with Miyoshi myopathy (distal autosomal recessive muscular dystrophy) (MM). Age at onset of symptoms, degree of creatine kinase elevation, and muscle histology were similar in both phenotypes. Segregation of LGMD/MM is consistent with autosomal recessive inheritance, and the putative locus is significantly linked (LOD scores >3.0) to six marker loci that span the region of the LGMD2B locus on chromosome 2p. Our initial hypothesis that the affected patients would all be homozygous by descent for microsatellite markers surrounding the disease locus was rejected. Rather, two different core haplotypes, encompassing a 4-cM region spanned by D2S291-D2S145-D2S286, segregated with the disease, indicating that there are two mutant alleles of independent origin in this kindred. There was no association, however, between the two different haplotypes and clinical variability; they do not distinguish between the LGMD and MM phenotypes. Thus, we conclude that LGMD and MM in our population are caused by the same mutation in LGMD2B and that additional factors, both genetic and nongenetic, must contribute to the clinical phenotype.
Indexed as
Identifiers
8808603PMC1914810W1608405154What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.