Highlights
- •Hereditary myofibrillar myopathy with axonal polyneuropathy, long QT 'interval and familial atrial fibrillation.
- •Phenotype of adult onset and distal leg weakness resembled CMT.
- •Remarkable semitendinosus muscle atrophy was observed.
- •Heterozygous P470S mutation in BAG3 may not be associated with apparent cardiomyopathy.
Abstract
We report a family with adult-onset myofibrillar myopathy with BAG3 mutation who presented peroneal weakness and axonal polyneuropathy, mimicking axonal
Charcot-Marie-Tooth disease. The male proband noticed difficulty in tiptoeing at age
34. At age 42, the examination showed muscle weakness and atrophy in distal lower
extremities with diminished patellar and Achilles tendon reflexes. Thermal and vibration
sensations were also impaired in both feet. The serum CK level was 659 U/L. On muscle
imaging, predominant semitendinosus muscle atrophy coexisted with atrophies in the
quadriceps, gastrocnemius and lumbar paraspinal muscles. The muscle biopsy showed
myofibrillar myopathy with fiber type grouping. His 68-year-old mother also had suffered
from distal leg weakness and sensory impairment since her forties. A heterozygous
mutation in BAG3 (P470S) was identified in both patients. Clinical features of myofibrillar myopathy
with axonal polyneuropathy were consistent with BAG3-related myopathy. Our patients
showed remarkably mild presentations without cardiomyopathy, unlike the majorities
of previously reported cases.
Keywords
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Article info
Publication history
Published online: July 31, 2020
Accepted:
July 28,
2020
Received in revised form:
June 5,
2020
Received:
November 8,
2019
Identification
Copyright
© 2020 Elsevier B.V. All rights reserved.
