Sporadic late-onset nemaline myopathy: Clinico-pathological characteristics and review of 76 cases

Orphanet Journal of Rare Diseases

Volumn 12, Issue 1, 2017, Pages

  Schnitzler, Lukas J ^a   Schreckenbach, Tobias ^b   Nadaj Pakleza, Aleksandra ^c   Stenzel, Werner ^d   Rushing, Elisabeth J ^e   Van Damme, Philip ^f,g,h   Ferbert, Andreas ⁱ   Petri, Susanne ^j   Hartmann, Christian ^j   Bornemann, Antje ^k   Meisel, Andreas ^d   Petersen, Jens A ^l   Tousseyn, Thomas ^f   Thal, Dietmar R ^f,g   Reimann, Jens ^m   De Jonghe, Peter ^n,o   Martin, Jean Jacques ^p   Van Den Bergh, Peter Y ^q   Schulz, Jörg B ^a,r   Weis, Joachim ^a   Claeys, Kristl G ^a,f,g   more..

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b Centre for Orthopaedic and Trauma Surgery   (Germany)

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^g KU LEUVEN UNIVERSITY OF LEUVEN   (Belgium)

^h DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

ⁱ KLINIKUM KASSEL   (Germany)

^j HANNOVER MEDICAL SCHOOL   (Germany)

^k UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^l UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^m UNIVERSITY HOSPITAL BONN   (Germany)

ⁿ ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^o UNIVERSITY OF ANTWERP   (Belgium)

^p UNIVERSITY OF ANTWERP   (Belgium)

^q CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^r RWTH AACHEN UNIVERSITY   (Germany)

more..

Author keywords

HIV associated nemaline myopathy; HIV NM; MGUS; Monoclonal gammopathy; Muscle biopsy; NGS; SLONM

Indexed keywords

RYANODINE RECEPTOR 1; SODIUM CHANNEL NAV1.9;

ACTA1 GENE; AUTOLOGOUS PERIPHERAL BLOOD STEM CELL TRANSPLANTATION; CFN2 GENE; COHORT ANALYSIS; DISEASE COURSE; DYSPHAGIA; DYSPNEA; GENE; GENE SEQUENCE; GENE TARGETING; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; KBTBD13 GENE; KLHL40 GENE; KLHL41 GENE; LMOD3 GENE; MUSCLE BIOPSY; MYPN GENE; NEB GENE; NEMALINE MYOPATHY; REVIEW; RYR1 GENE; SCN11A GENE; SH3TC2 GENE; SPORADIC LATE ONSET NEMALINE MYOPATHY; SYSTEMATIC REVIEW; TNNT1 GENE; TPM2 GENE; TPM3 GENE; WEAKNESS; ANIMAL; HIGH THROUGHPUT SEQUENCING; IMMUNOSUPPRESSIVE TREATMENT; METABOLISM; MUSCLE; ONSET AGE; PATHOLOGY; PROCEDURES; STEM CELL TRANSPLANTATION;

AGE OF ONSET; ANIMALS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOSUPPRESSION; MUSCLES; MYOPATHIES, NEMALINE; STEM CELL TRANSPLANTATION;

EID: 85019161578     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-017-0640-2     Document Type: Review

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