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Absent muscle dystrophin expression

MedGen UID:
868255
•Concept ID:
C4022647
•
Finding
HPO: HP:0030097

Definition

Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent muscle dystrophin expression

Professional guidelines

PubMed

Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V
Neuromuscul Disord 2008 Dec;18(12):934-41. Epub 2008 Nov 7 doi: 10.1016/j.nmd.2008.08.003. PMID: 18996010

Recent clinical studies

Etiology

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy.
Chesshyre M, Ridout D, Hashimoto Y, Ookubo Y, Torelli S, Maresh K, Ricotti V, Abbott L, Gupta VA, Main M, Ferrari G, Kowala A, Lin YY, Tedesco FS, Scoto M, Baranello G, Manzur A, Aoki Y, Muntoni F
J Cachexia Sarcopenia Muscle 2022 Apr;13(2):1360-1372. Epub 2022 Jan 26 doi: 10.1002/jcsm.12914. PMID: 35083887Free PMC Article
Impaired muscle spindle function in murine models of muscular dystrophy.
Gerwin L, Rossmanith S, Haupt C, Schultheiß J, Brinkmeier H, Bittner RE, Kröger S
J Physiol 2020 Apr;598(8):1591-1609. Epub 2020 Feb 21 doi: 10.1113/JP278563. PMID: 32003874
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V
Neuromuscul Disord 2008 Dec;18(12):934-41. Epub 2008 Nov 7 doi: 10.1016/j.nmd.2008.08.003. PMID: 18996010
Variable histological expression of dystrophinopathy in two females.
Doriguzzi C, Palmucci L, Mongini T, Chiadò-Piat L, Saggiorato C, Ugo I, Hoffman EP
Acta Neuropathol 1999 Jun;97(6):657-60. doi: 10.1007/s004010051043. PMID: 10378386
Respiratory muscles as a target for adenovirus-mediated gene therapy.
Petrof BJ
Eur Respir J 1998 Feb;11(2):492-7. doi: 10.1183/09031936.98.11020492. PMID: 9551759

Diagnosis

Changes in Muscle Metabolism are Associated with Phenotypic Variability in Golden Retriever Muscular Dystrophy.
Nghiem PP, Bello L, Stoughton WB, López SM, Vidal AH, Hernandez BV, Hulbert KN, Gourley TR, Bettis AK, Balog-Alvarez CJ, Heath-Barnett H, Kornegay JN
Yale J Biol Med 2017 Sep;90(3):351-360. Epub 2017 Sep 25 PMID: 28955176Free PMC Article
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V
Neuromuscul Disord 2008 Dec;18(12):934-41. Epub 2008 Nov 7 doi: 10.1016/j.nmd.2008.08.003. PMID: 18996010
Costameric proteins in human skeletal muscle during muscular inactivity.
Anastasi G, Cutroneo G, Santoro G, Arco A, Rizzo G, Bramanti P, Rinaldi C, Sidoti A, Amato A, Favaloro A
J Anat 2008 Sep;213(3):284-95. Epub 2008 Jun 5 doi: 10.1111/j.1469-7580.2008.00921.x. PMID: 18537849Free PMC Article
Diagnosis of dystrophinopathy by skin biopsy.
Niiyama T, Higuchi I, Sakoda S, Matsumura T, Fukunaga H, Osame M
Muscle Nerve 2002 Mar;25(3):398-401. doi: 10.1002/mus.10040. PMID: 11870717
Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. A new method for diagnosing Duchenne's muscular dystrophy.
Sancho S, Mongini T, Tanji K, Tapscott SJ, Walker WF, Weintraub H, Miller AD, Miranda AF
N Engl J Med 1993 Sep 23;329(13):915-20. doi: 10.1056/NEJM199309233291303. PMID: 8361505

Therapy

Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.
Viggiano E, Ergoli M, Picillo E, Politano L
Hum Genet 2016 Jul;135(7):685-98. Epub 2016 Apr 21 doi: 10.1007/s00439-016-1666-6. PMID: 27098336
First test of a "high-density injection" protocol for myogenic cell transplantation throughout large volumes of muscles in a Duchenne muscular dystrophy patient: eighteen months follow-up.
Skuk D, Goulet M, Roy B, Piette V, Côté CH, Chapdelaine P, Hogrel JY, Paradis M, Bouchard JP, Sylvain M, Lachance JG, Tremblay JP
Neuromuscul Disord 2007 Jan;17(1):38-46. Epub 2006 Dec 4 doi: 10.1016/j.nmd.2006.10.003. PMID: 17142039
Adenovirus-mediated utrophin gene transfer mitigates the dystrophic phenotype of mdx mouse muscles.
Gilbert R, Nalbantoglu J, Petrof BJ, Ebihara S, Guibinga GH, Tinsley JM, Kamen A, Massie B, Davies KE, Karpati G
Hum Gene Ther 1999 May 20;10(8):1299-310. doi: 10.1089/10430349950017987. PMID: 10365661
Myoblast implantation in Duchenne muscular dystrophy: the San Francisco study.
Miller RG, Sharma KR, Pavlath GK, Gussoni E, Mynhier M, Lanctot AM, Greco CM, Steinman L, Blau HM
Muscle Nerve 1997 Apr;20(4):469-78. doi: 10.1002/(sici)1097-4598(199704)20:4<469::aid-mus10>3.0.co;2-u. PMID: 9121505
Mosaic pattern of dystrophins in Duchenne muscular dystrophy.
Tachi N, Sasaki K, Yamada T, Imamura S, Mike T
Pediatr Neurol 1990 Jan-Feb;6(1):54-6. doi: 10.1016/0887-8994(90)90080-k. PMID: 2178618

Prognosis

In vitro evaluation of novel antisense oligonucleotides is predictive of in vivo exon skipping activity for Duchenne muscular dystrophy.
Wang Q, Yin H, Camelliti P, Betts C, Moulton H, Lee H, Saleh AF, Gait MJ, Wood MJ
J Gene Med 2010 Apr;12(4):354-64. doi: 10.1002/jgm.1446. PMID: 20235089
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V
Neuromuscul Disord 2008 Dec;18(12):934-41. Epub 2008 Nov 7 doi: 10.1016/j.nmd.2008.08.003. PMID: 18996010
First test of a "high-density injection" protocol for myogenic cell transplantation throughout large volumes of muscles in a Duchenne muscular dystrophy patient: eighteen months follow-up.
Skuk D, Goulet M, Roy B, Piette V, Côté CH, Chapdelaine P, Hogrel JY, Paradis M, Bouchard JP, Sylvain M, Lachance JG, Tremblay JP
Neuromuscul Disord 2007 Jan;17(1):38-46. Epub 2006 Dec 4 doi: 10.1016/j.nmd.2006.10.003. PMID: 17142039
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RA, Leigh IM, Christiano AM, Uitto J
Genes Dev 1996 Jul 15;10(14):1724-35. doi: 10.1101/gad.10.14.1724. PMID: 8698233

Clinical prediction guides

IPSC derived cardiac fibroblasts of DMD patients show compromised actin microfilaments, metabolic shift and pro-fibrotic phenotype.
Soussi S, Savchenko L, Rovina D, Iacovoni JS, Gottinger A, Vialettes M, Pioner JM, Farini A, Mallia S, Rabino M, Pompilio G, Parini A, Lairez O, Gowran A, Pizzinat N
Biol Direct 2023 Jul 27;18(1):41. doi: 10.1186/s13062-023-00398-2. PMID: 37501163Free PMC Article
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy.
Chesshyre M, Ridout D, Hashimoto Y, Ookubo Y, Torelli S, Maresh K, Ricotti V, Abbott L, Gupta VA, Main M, Ferrari G, Kowala A, Lin YY, Tedesco FS, Scoto M, Baranello G, Manzur A, Aoki Y, Muntoni F
J Cachexia Sarcopenia Muscle 2022 Apr;13(2):1360-1372. Epub 2022 Jan 26 doi: 10.1002/jcsm.12914. PMID: 35083887Free PMC Article
Impaired muscle spindle function in murine models of muscular dystrophy.
Gerwin L, Rossmanith S, Haupt C, Schultheiß J, Brinkmeier H, Bittner RE, Kröger S
J Physiol 2020 Apr;598(8):1591-1609. Epub 2020 Feb 21 doi: 10.1113/JP278563. PMID: 32003874
Respiratory muscles as a target for adenovirus-mediated gene therapy.
Petrof BJ
Eur Respir J 1998 Feb;11(2):492-7. doi: 10.1183/09031936.98.11020492. PMID: 9551759
Dystrophin expression in skin biopsy immunohistochemical. Localisation of striated muscle type dystrophin.
Marbini A, Marcello N, Bellanova MF, Guidetti D, Ferrari A, Gemignani F
J Neurol Sci 1995 Mar;129(1):29-33. doi: 10.1016/0022-510x(94)00240-o. PMID: 7751841

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