New molecular findings in congenital myopathies due to selenoprotein N gene mutations

R. Cagliani, M. E. Fruguglietti, A. Berardinelli, M. G. D'Angelo, A. Prelle, S. Riva, L. Napoli, K. Gorni, S. Orcesi, C. Lamperti, A. Pichiecchio, E. Signaroldi, R. Tupler, F. Magri, A. Govoni, S. Corti, N. Bresolin, M. Moggio, G. P. Comi

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity and can result in specific pathological entities such as multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and congenital fiber-type disproportion. Here we describe the clinical, histopathological, muscle magnetic resonance imaging (MRI) and genetic findings of three Italian SEPN1-RM families. Proband 1 is a 31-year-old female who was floppy at birth and developed axial and mild lower limb-girdle weakness. The second proband is a 13-year-old boy with RSMD1. Probands 3 and 4 were brothers showing clinical phenotype of congenital myopathy. Muscle MRI demonstrated selective involvement of sartorius, gluteal muscles and distal gastrocnemius and sparing of rectus femoris and gracilis. Muscle histopathology showed in proband 1 myopathic changes with mild connective tissue increase and some fibres lacking the Z-line, while probands 2 and 3 had multiminicores. SEPN1 gene analysis revealed five mutations, three of which are novel. Proband 1 was a compound heterozygote for a 92-bp (exon 1) and a 1-bp deletion (exon 9); proband 2 had a 99-bp deletion and a 10-bp duplication in exon 1, and proband 3 presented a novel homozygous mutation in intron 10 acceptor splice site.

Original languageEnglish
Pages (from-to)107-113
Number of pages7
JournalJournal of the Neurological Sciences
Volume300
Issue number1-2
DOIs
Publication statusPublished - Jan 15 2011

Fingerprint

Myotonia Congenita
Selenoproteins
Exons
Muscular Diseases
Muscles
Mutation
Congenital Structural Myopathies
Magnetic Resonance Imaging
Genes
RNA Splice Sites
Muscular Dystrophies
Quadriceps Muscle
Heterozygote
Connective Tissue
Introns
Siblings
Lower Extremity
Skeletal Muscle
Parturition
Phenotype

Keywords

  • Congenital myopathy
  • Gene
  • Mutation
  • Selenoprotein

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

New molecular findings in congenital myopathies due to selenoprotein N gene mutations. / Cagliani, R.; Fruguglietti, M. E.; Berardinelli, A.; D'Angelo, M. G.; Prelle, A.; Riva, S.; Napoli, L.; Gorni, K.; Orcesi, S.; Lamperti, C.; Pichiecchio, A.; Signaroldi, E.; Tupler, R.; Magri, F.; Govoni, A.; Corti, S.; Bresolin, N.; Moggio, M.; Comi, G. P.

In: Journal of the Neurological Sciences, Vol. 300, No. 1-2, 15.01.2011, p. 107-113.

Research output: Contribution to journalArticle

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AU - D'Angelo, M. G.

AU - Prelle, A.

AU - Riva, S.

AU - Napoli, L.

AU - Gorni, K.

AU - Orcesi, S.

AU - Lamperti, C.

AU - Pichiecchio, A.

AU - Signaroldi, E.

AU - Tupler, R.

AU - Magri, F.

AU - Govoni, A.

AU - Corti, S.

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AU - Moggio, M.

AU - Comi, G. P.

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