A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family

Myofibrillar myopathy in the genomic context

(2018) Jakub Piotr Fichna et al.   JOURNAL OF APPLIED GENETICS

Drosophila small heat shock protein CryAB ensures structural integrity of developing muscles, and proper muscle and heart performance

(2015) I. Wojtowicz et al.   DEVELOPMENT

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

(2013) Asli Subasioglu Uzak et al.   Genetic Testing and Molecular Biomarkers

Myofibrillar myopathies

(2011) Duygu Selcen   NEUROMUSCULAR DISORDERS

A novel CRYAB mutation resulting in multisystemic disease

(2011) Sabrina Sacconi et al.   NEUROMUSCULAR DISORDERS

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

(2010) Marc R. Del Bigio et al.   ANNALS OF NEUROLOGY

End-Stage Cardiac Disease as an Initial Presentation of Systemic Myopathies: Case Series and Literature Review

(2010) Hans Katzberg et al.   JOURNAL OF CHILD NEUROLOGY

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

(2010) Peter Reilich et al.   NEUROMUSCULAR DISORDERS

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

(2010) Katharine M.L. Forrest et al.   NEUROMUSCULAR DISORDERS

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

(2009) Lev G. Goldfarb et al.   JOURNAL OF CLINICAL INVESTIGATION

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

(2009) Gerard Piñol-Ripoll et al.   NEUROMUSCULAR DISORDERS

Truncation of αB-Crystallin by the Myopathy-causing Q151X Mutation Significantly Destabilizes the Protein Leading to Aggregate Formation in Transfected Cells

(2008) Victoria H. Hayes et al.   JOURNAL OF BIOLOGICAL CHEMISTRY