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.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Cagliani R,Fruguglietti ME,Berardinelli A,D'Angelo MG,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 GPdoi
10.1016/j.jns.2010.09.011subject
Has Abstractpub_date
2011-01-15 00:00:00pages
107-13issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(10)00447-8journal_volume
300pub_type
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