Literature DB >> 14683634

The utility of muscle biopsy.

David Lacomis1.   

Abstract

Despite major advances in molecular genetics, histopathologic evaluation of muscle biopsy specimens continues to provide important diagnostic information in patients with suspected muscle diseases and in patients with vasculitic neuropathies. Muscle biopsy specimens are used in diagnosing many inherited as well as inflammatory and toxic myopathies. Furthermore, the study of muscle histopathology can also enhance our understanding of disease pathogenesis.

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Year:  2004        PMID： 14683634     DOI： 10.1007/s11910-004-0017-5

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN： 1528-4042            Impact factor:   5.081


  38 in total

1.  Is a muscle biopsy in Duchenne dystrophy really necessary?

Authors:  F Muntoni
Journal:  Neurology       Date:  2001-08-28       Impact factor: 9.910

2.  Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

Authors:  E Gallardo; R Rojas-García; N de Luna; A Pou; R H Brown; I Illa
Journal:  Neurology       Date:  2001-12-11       Impact factor: 9.910

3.  In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophy.

Authors:  Denise Ladwig; David Mowat; Vivienne Tobias; Peter J Taylor; Michael F Buckley; Glenn McNally; Daniel Challis
Journal:  Aust N Z J Obstet Gynaecol       Date:  2002-02       Impact factor: 2.100

4.  Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Authors:  Maki Takahashi; Ayaka Yamamoto; Kyoko Takano; Akira Sudo; Takahito Wada; Yu-ichi Goto; Ichizo Nishino; Shinji Saitoh
Journal:  Ann Neurol       Date:  2002-07       Impact factor: 10.422

5.  Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Authors:  M Brockington; Y Yuva; P Prandini; S C Brown; S Torelli; M A Benson; R Herrmann; L V Anderson; R Bashir; J M Burgunder; S Fallet; N Romero; M Fardeau; V Straub; G Storey; C Pollitt; I Richard; C A Sewry; K Bushby; T Voit; D J Blake; F Muntoni
Journal:  Hum Mol Genet       Date:  2001-12-01       Impact factor: 6.150

6.  Percutaneous needle muscle biopsy in the evaluation of patients with suspected inflammatory myopathy.

Authors:  J V Campellone; D Lacomis; M J Giuliani; C V Oddis
Journal:  Arthritis Rheum       Date:  1997-10

7.  Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

Authors:  H Jungbluth; C R Müller; B Halliger-Keller; M Brockington; S C Brown; L Feng; A Chattopadhyay; E Mercuri; A Y Manzur; A Ferreiro; N G Laing; M R Davis; H P Roper; V Dubowitz; G Bydder; C A Sewry; F Muntoni
Journal:  Neurology       Date:  2002-07-23       Impact factor: 9.910

8.  Axial myopathy--an unrecognised entity.

Authors:  Ibrahim Mahjneh; G Marconi; A Paetau; A Saarinen; T Salmi; H Somer
Journal:  J Neurol       Date:  2002-06       Impact factor: 4.849

Review 9.  Clinicopathological features of genetically confirmed Danon disease.

Authors:  K Sugie; A Yamamoto; K Murayama; S J Oh; M Takahashi; M Mora; J E Riggs; J Colomer; C Iturriaga; A Meloni; C Lamperti; S Saitoh; E Byrne; S DiMauro; I Nonaka; M Hirano; I Nishino
Journal:  Neurology       Date:  2002-06-25       Impact factor: 9.910

10.  Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.

Authors:  L Merlini; I Carbone; C Capanni; P Sabatelli; S Tortorelli; F Sotgia; M P Lisanti; C Bruno; C Minetti
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-07       Impact factor: 10.154
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  3 in total

Review 1.  Skeletal muscle disorders associated with inflammatory bowel diseases: occurrence of myositis in a patient with ulcerative colitis and Hashimoto's thyroiditis--case report and review of the literature.

Authors:  Omero Alessandro Paoluzi; Pietro Crispino; Margherita Rivera; Federico Iacopini; Dino Palladini; Adriana Consolazio; Paolo Paoluzi
Journal:  Int J Colorectal Dis       Date:  2005-10-05       Impact factor: 2.571

2.  Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort.

Authors:  Hongxia Yang; Xiaolan Tian; Lining Zhang; Wenli Li; Qingyan Liu; Wei Jiang; Qinglin Peng; Guochun Wang; Xin Lu
Journal:  BMC Musculoskelet Disord       Date:  2022-05-06       Impact factor: 2.562

3.  Clinical and biological characterization of skeletal muscle tissue biopsies of surgical cancer patients.

Authors:  Ana Anoveros-Barrera; Amritpal S Bhullar; Cynthia Stretch; Nina Esfandiari; Abha R Dunichand-Hoedl; Karen J B Martins; David Bigam; Rachel G Khadaroo; Todd McMullen; Oliver F Bathe; Sambasivarao Damaraju; Richard J Skipworth; Charles T Putman; Vickie E Baracos; Vera C Mazurak
Journal:  J Cachexia Sarcopenia Muscle       Date:  2019-07-15       Impact factor: 12.063
  3 in total

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