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Abnormal muscle fiber dystrophin expression

MedGen UID:
868256
•Concept ID:
C4022648
•
Anatomical Abnormality
Synonym: Abnormal muscle fibre dystrophin expression
 
HPO: HP:0030096

Definition

A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. [from HPO]

Recent clinical studies

Etiology

Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin.
Capitanio D, Moriggi M, Barbacini P, Torretta E, Moroni I, Blasevich F, Morandi L, Mora M, Gelfi C
Int J Mol Sci 2022 Feb 27;23(5) doi: 10.3390/ijms23052624. PMID: 35269765Free 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
Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).
Lagalice L, Pichon J, Gougeon E, Soussi S, Deniaud J, Ledevin M, Maurier V, Leroux I, Durand S, Ciron C, Franzoso F, Dubreil L, Larcher T, Rouger K, Colle MA
Acta Neuropathol Commun 2018 Oct 31;6(1):116. doi: 10.1186/s40478-018-0609-y. PMID: 30382921Free PMC Article
Immunohistochemical alterations of dystrophin in congenital muscular dystrophy.
Werneck LC, Bonilla E
Arq Neuropsiquiatr 1995 Sep;53(3-A):416-23. doi: 10.1590/s0004-282x1995000300008. PMID: 8540815
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy.
Doriguzzi C, Palmucci L, Mongini T, Chiadò-Piat L, Restagno G, Ferrone M
J Neurol 1993 May;240(5):269-71. doi: 10.1007/BF00838159. PMID: 8326329

Diagnosis

Multifaceted antibodies development against synthetic α-dystroglycan mucin glycopeptide as promising tools for dystroglycanopathies diagnostic.
Canassa-DeLeo T, Campo VL, Rodrigues LC, Marchiori MF, Fuzo C, Brigido MM, Sandomenico A, Ruvo M, Maranhão AQ, Dias-Baruffi M
Glycoconj J 2020 Feb;37(1):77-93. Epub 2019 Dec 10 doi: 10.1007/s10719-019-09893-z. PMID: 31823246
TRP channels in normal and dystrophic skeletal muscle.
Gailly P
Curr Opin Pharmacol 2012 Jun;12(3):326-34. Epub 2012 Feb 18 doi: 10.1016/j.coph.2012.01.018. PMID: 22349418
Dystrophinopathies in females.
Hausmanowa-Petrusewicz I, Fidziańska A, Niebrój-Dobosz I, Dorobek M, Bojakowski J
Folia Neuropathol 2000;38(1):7-12. PMID: 11057028
Manifesting carriers of Xp21 muscular dystrophy; lack of correlation between dystrophin expression and clinical weakness.
Sewry CA, Sansome A, Clerk A, Sherratt TG, Hasson N, Rodillo E, Heckmatt JZ, Strong PN, Dubowitz V
Neuromuscul Disord 1993 Mar;3(2):141-8. doi: 10.1016/0960-8966(93)90006-6. PMID: 8358239
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy.
Nicholson LV, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB
Acta Neuropathol 1990;80(3):239-50. doi: 10.1007/BF00294640. PMID: 2205076

Therapy

Matrix metalloproteinase inhibitor batimastat alleviates pathology and improves skeletal muscle function in dystrophin-deficient mdx mice.
Kumar A, Bhatnagar S, Kumar A
Am J Pathol 2010 Jul;177(1):248-60. Epub 2010 May 14 doi: 10.2353/ajpath.2010.091176. PMID: 20472898Free PMC Article
Expression of dystrophin-associated glycoproteins and utrophin in carriers of Duchenne muscular dystrophy.
Sewry CA, Matsumura K, Campbell KP, Dubowitz V
Neuromuscul Disord 1994 Sep-Nov;4(5-6):401-9. doi: 10.1016/0960-8966(94)90079-5. PMID: 7881285
Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers.
Vainzof M, Nicholson LV, Bulman DE, Tsanaclis AM, Passos-Bueno MR, Pavanello RC, Zatz M
Neuromuscul Disord 1993 Mar;3(2):135-40. doi: 10.1016/0960-8966(93)90005-5. PMID: 7689380

Prognosis

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).
Lagalice L, Pichon J, Gougeon E, Soussi S, Deniaud J, Ledevin M, Maurier V, Leroux I, Durand S, Ciron C, Franzoso F, Dubreil L, Larcher T, Rouger K, Colle MA
Acta Neuropathol Commun 2018 Oct 31;6(1):116. doi: 10.1186/s40478-018-0609-y. PMID: 30382921Free PMC Article

Clinical prediction guides

Indian Ornamental Tarantula (Poecilotheria regalis) Venom Affects Myoblast Function and Causes Skeletal Muscle Damage.
Richards NJ, Alqallaf A, Mitchell RD, Parnell A, Haidar HB, Almeida JR, Williams J, Vijayakumar P, Balogun A, Matsakas A, Trim SA, Patel K, Vaiyapuri S
Cells 2023 Aug 15;12(16) doi: 10.3390/cells12162074. PMID: 37626884Free 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
Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy.
Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM
Proc Natl Acad Sci U S A 2017 Jun 6;114(23):6080-6085. Epub 2017 May 22 doi: 10.1073/pnas.1703556114. PMID: 28533404Free PMC Article
Absence of dystrophin and spectrin in regenerating muscle fibers from Becker dystrophy patients.
Fanin M, Pegoraro E, Angelini C
J Neurol Sci 1994 May;123(1-2):88-94. doi: 10.1016/0022-510x(94)90208-9. PMID: 8064327
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy.
Nicholson LV, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB
Acta Neuropathol 1990;80(3):239-50. doi: 10.1007/BF00294640. PMID: 2205076

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