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BAG3 myofibrillar myopathy presenting with cardiomyopathy. Neuromuscul Disord 2015 May;25(5):418-22

Date

03/03/2015

Pubmed ID

25728519

DOI

10.1016/j.nmd.2015.01.009

Scopus ID

2-s2.0-84927912558   48 Citations

Abstract

Myofibrillar myopathies (MFMs) are a heterogeneous group of neuromuscular disorders distinguished by the pathological hallmark of myofibrillar dissolution. Most patients present in adulthood, but mutations in several genes including BCL2-associated athanogene 3 (BAG3) cause predominantly childhood-onset disease. BAG3-related MFM is particularly severe, featuring weakness, cardiomyopathy, neuropathy, and early lethality. While prior cases reported either neuromuscular weakness or concurrent weakness and cardiomyopathy at onset, we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12). The phenotype comprised distal weakness and severe sensorimotor neuropathy. Nerve biopsy was primarily axonal with secondary demyelinating/remyelinating changes without "giant axons." Muscle biopsy showed extensive neuropathic changes that made myopathic changes difficult to interpret. Similar to previous cases, a p.Pro209Leu mutation in exon 3 of BAG3 was found. This case underlines the importance of evaluating for MFMs in patients with combined neuromuscular weakness and cardiomyopathy.

Author List

Konersman CG, Bordini BJ, Scharer G, Lawlor MW, Zangwill S, Southern JF, Amos L, Geddes GC, Kliegman R, Collins MP

Authors

Louella B. Amos MD Associate Professor in the Pediatrics department at Medical College of Wisconsin
Brett J. Bordini MD Associate Professor in the Pediatrics department at Medical College of Wisconsin
Michael W. Lawlor MD, PhD Professor in the Pathology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adaptor Proteins, Signal Transducing
Adult
Apoptosis Regulatory Proteins
Cardiomyopathies
Heart Transplantation
Humans
Male
Muscle, Skeletal
Mutation, Missense
Myopathies, Structural, Congenital
Neural Conduction
Sural Nerve
Young Adult