BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot–Marie–Tooth disease

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

(2017) Jean-Baptiste Noury et al.   MUSCLE & NERVE

BAG3: a new player in the heart failure paradigm

(2015) Tijana Knezevic et al.   HEART FAILURE REVIEWS

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

(2015) Anna Kostera-Pruszczyk et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

BAG3 myofibrillar myopathy presenting with cardiomyopathy

(2015) Chamindra G. Konersman et al.   NEUROMUSCULAR DISORDERS

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

(2014) Anna-Lena Semmler et al.   Orphanet Journal of Rare Diseases

BAG3 mutations: another cause of giant axonal neuropathy

(2012) Fatima Jaffer et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BAG3-related myofibrillar myopathy in a Chinese family

(2011) HC Lee et al.   CLINICAL GENETICS

Dilated cardiomyopathy-associatedBAG3mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

(2011) Takuro Arimura et al.   HUMAN MUTATION

Myofibrillar myopathies

(2011) Duygu Selcen   NEUROMUSCULAR DISORDERS

BAG3: a multifaceted protein that regulates major cell pathways

(2011) A Rosati et al.   Cell Death & Disease

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

(2010) Zagaa Odgerel et al.   NEUROMUSCULAR DISORDERS

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY