Highlights
- •A novel missense SELN variant causing congenital myopathy is reported.
- •The lack of minicores as the main biopsy finding of SELN-myopathy is underscored.
- •Muscle biopsy may not distinguish SELN-myopathy from congenital muscular dystrophy.
Abstract
Multiminicore disease is a myopathy that is pathologically characterized by the presence
of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization
lacking mitochondria (minicores) that can be observed in both type 1 and type 2 fibers.
Most cases of multiminicore disease typically present with early-onset axial weakness,
respiratory insufficiency, scoliosis, and rigid spine. There is no correlation between
the frequency of minicores and clinical severity. Multiminicore disease is genetically
heterogeneous and can result from recessive or dominant mutations. Genetic testing
is needed to establish the precise diagnosis and provide overall prognosis. Here we
report a 23-year-old woman with respiratory failure, distal joint hyper-laxity, scoliosis
and rigid spine due to multiminicore disease caused by a novel compound heterozygous
mutation in the selenoprotein N1-encoding gene (SELN). The preserved ambulation into adulthood and normal creatinine kinase (CK) favor
the diagnosis of congenital myopathy over congenital muscular dystrophy (CMD). However,
the nonspecific myopathic histopathological changes and extremely rare minicore-like
structures can make it challenging to differentiate between SELN-myopathy and congenital
muscular dystrophies, such as Ullrich or lamin A/C-CMD.
Keywords
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References
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Article info
Publication history
Published online: January 03, 2019
Accepted:
December 23,
2018
Received:
November 27,
2018
Identification
Copyright
© 2018 Elsevier Ltd. All rights reserved.
