[en] We report the case of a 26-year-old man who initiated a limb girdle muscular dystrophy (lgmd2b). It is a rare and slowly progressive autosomal recessive dysferlinopathy occurring in young adults and for which no treatment is currently known.
Disciplines :
Genetics & genetic processes
Author, co-author :
Saintmard, G.
Brands, G.
Debray, François-Guillaume ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Maladies métaboliques d'origine génétique
Lognard, M.
Language :
French
Title :
Faiblesse progressive des membres inferieurs revelatrice d'une dystrophie musculaire des ceintures.
Alternative titles :
[en] Progressive muscular weakness of lower limbs revealing a limb girdle muscular dystrophy
Publication date :
2017
Journal title :
Revue Médicale de Liège
ISSN :
0370-629X
eISSN :
2566-1566
Publisher :
Université de Liège. Revue Médicale de Liège, Liège, Belgium
Takahashi T, Aoki M, Tateyama M, et al.- Mutational and clinical features of Japanese patients with dysferlinopathy. Clin Neurol, 2003, 45, 938-942.
Prelle A, Sciacco M, Tancredi L, et al.- Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. Acta Neuropathol, 2003, 105, 537-542.
Anderson LVB, Davison K.- Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol, 1999, 154, No. 4.
Ho M, Gallardo E, McKenna-Yasek D et al.- A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol, 2002, 51, 129-133.
Cacciottolo M, Numitone G, Aurino S et al.- Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet, 2011, 19, 974-980.
Narayanaswami P, Carter G, David W, et al.- Evidence- based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology, 2015, 84, 1720-1721.
Blandin G, Beroud C, Labelle V, et al.- UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene. Hum Mutat, 2012, 33, 2317-2331.
Kerr PJ, Ward CW, Bloch RJ.- Dysferlin at transverse tubules regulates Ca2+ homeostasis in skeletal muscle. Front Physiol, 2014, 6, 89.
Dominov JA, Uyan O, Sapp PC, et al.- A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides. Ann Clin Transl Neurol, 2014, 1, 703- 720.
Schoewel V, Marg A, Kunz S, et al.- Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. Ann Clin Transl Neurol, 2012, 7.
Lostal W, Bartoli M, Roudaut C, et al.- Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS ONE, 2012, 7.
Angelini C, Peterle E, Gaiani A, et al.- Dysferlinopathy course and sportive activity : Clues for possible treatment. Acta Myol, 2011, 30, 127-132.
Rocha CT, Hoffman EP.- Limb-Girdle and congenital muscular dystrophies: Current diagnostics, management, and emerging technologies. Curr Neurol Neurosci Rep, 2010, 10, 267-276.
Walter MC, Reilich P, Thiele S, et al.- Treatment of dysferlinopathy with deflazacort: A double-blind, placebo- controlled clinical trial. Orphanet J Rare Dis, 2013, 8, 26.
Lostal W, Bartoli M, Bourg N, et al.- Efficient recovery of dysferline deficiency by dual adeno-associated vectors mediated gene transfer. Hum Mol Genet, 2010, 19, 1897-1907.
