Highlights
- •LMNA mutation was found in congenital fiber type disproportion (CFTD) patients.
- •Fiber type disproportion is often seen in LMNA-related muscular dystrophy.
- •Fiber type disproportion in LMNA-myopathy is due to hypertrophy of fast fibers.
- •LMNA-myopathy should be considered whenever a diagnosis of CFTD is made.
Abstract
A boy, who had shown muscle weakness and hypotonia from early childhood and fiber
type disproportion (FTD) with no dystrophic changes on muscle biopsy, was initially
diagnosed as having congenital fiber type disproportion (CFTD). Subsequently, he developed
cardiac conduction blocks. We reconsidered the diagnosis as possible LMNA-myopathy
and found a heterozygous mutation in the LMNA gene. This encouraged us to search for LMNA mutations on 80 patients who met the diagnostic criteria of CFTD with unknown cause.
Two patients including the above index case had heterozygous in-frame deletion mutations
of c.367_369delAAG and c.99_101delGGA in LMNA, respectively. Four of 23 muscular dystrophy patients with LMNA mutation also showed fiber type disproportion (FTD). Importantly, all FTD associated
with LMNA-myopathy were caused by hypertrophy of type 2 fibers as compared with age-matched
controls, whereas CFTD with mutations in ACTA1 or TPM3 showed selective type 1 fiber atrophy but no type 2 fiber hypertrophy. Although FTD
is not a constant pathological feature of LMNA-myopathy, we should consider the possibility
of LMNA-myopathy whenever a diagnosis of CFTD is made and take steps to prevent cardiac
insufficiency.
Keywords
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Article info
Publication history
Published online: March 18, 2014
Accepted:
February 26,
2014
Received in revised form:
February 24,
2014
Received:
December 5,
2013
Identification
Copyright
© 2014 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
