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

Journal of the Neurological Sciences

Volumn 300, Issue 1-2, 2011, Pages 107-113

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

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^d FATEBENEFRATELLI HOSPITAL   (Italy)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Congenital myopathy; Gene; Mutation; Selenoprotein

Indexed keywords

DESMIN; SELENOPROTEIN; SELENOPROTEIN N; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CONNECTIVE TISSUE; EXON; FEMALE; GASTROCNEMIUS MUSCLE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GLUTEUS MAXIMUS MUSCLE; GRACILIS MUSCLE; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; ITALY; LIMB WEAKNESS; MALE; MALLORY BODY; MULTIMINICORE DISEASE; MUSCLE RIGIDITY; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RECTUS FEMORIS MUSCLE; SARTORIUS MUSCLE;

ADOLESCENT; ADULT; ATROPHY; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; SELENOPROTEINS;

EID: 78650509693     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.09.011     Document Type: Article

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