ArticleAnnals of neurology2011
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.
Article in Annals of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 67 citations in OpenAlex.
- Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.Journal of human genetics · 2024Article
- Alpha B-Crystallin in Muscle Disease Prevention: The Role of Physical Activity.Molecules (Basel, Switzerland) · 2022Review
- Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in theFrontiers in pediatrics · 2022Article
- Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.Frontiers in molecular biosciences · 2022Review
- Multi-system neurological disorder associated with a CRYAB variant.Neurogenetics · 2021Article
- Function and Fiber-Type Specific Distribution of Hsp60 and αB-Crystallin in Skeletal Muscles: Role of Physical Exercise.Biology · 2021Review
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.Molecular genetics & genomic medicine · 2020Article
- Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.International journal of molecular sciences · 2020Review
- A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.Molecular genetics & genomic medicine · 2019Article
- Review
- The role of αB-crystallin in skeletal and cardiac muscle tissues.Cell stress & chaperones · 2018Review
- TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.Annals of neurology · 2015Article
- Molecular chaperones and neuronal proteostasis.Seminars in cell & developmental biology · 2015Review
- Small heat-shock proteins: important players in regulating cellular proteostasis.Cellular and molecular life sciences : CMLS · 2015Review
- Article
- Myofibrillar myopathies: new developments.Current opinion in neurology · 2013Review
- The human crystallin gene families.Human genomics · 2012Review
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
objectiveA recessively transmitted fatal hypertonic infantile muscular dystrophy has been described in Canadian aboriginals. The affected infants present with progressive limb and axial muscle stiffness and develop severe respiratory insufficiency, and most die in the first year of life. We sought to determine the genetic basis of this disease.
methodsWe performed histochemical, immunocytochemical, electron microscopy, and molecular genetic studies in a cohort of 12 patients affected by this disease.
resultsConventional histochemical and electron microscopy studies suggested myofibrillar myopathy (MFM). Therefore, we searched for ectopic expression of multiple proteins typical of MFM. Alpha B-crystallin (αBC) expression was absent from all fibers using a monoclonal antibody raised against the entire protein. However, a monoclonal antibody directed against the first 10 residues of αBC immunostained portions of abnormal fibers. Pursuing this clue, we searched for mutations in the gene for αBC (CRYAB) in available DNA samples of 8 patients. All harbored a homozygous deletion, c.60C, predicting a Ser to Ala change at codon 21 and a stop codon after 23 missense residues (p.Ser21AlafsX24). Clinically unaffected parents were heterozygous for this mutation.
interpretationThe homozygous c.60delC in CRYAB pinpoints the genetic basis of the fatal infantile hypertonic muscular dystrophy of Canadian aboriginals. MFMs are typically transmitted by dominant inheritance, but in this disease the parental phenotype is rescued by limited expression of the highly truncated nonfunctional mutant gene product. The severe patient phenotype is due to homozygosity for the markedly hypomorphic allele. Ann Neurol, 2011.
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