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2021 2
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2023 48
2024 15

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2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.
Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K. Groh WJ, et al. Heart Rhythm. 2022 Oct;19(10):e61-e120. doi: 10.1016/j.hrthm.2022.04.022. Epub 2022 Apr 29. Heart Rhythm. 2022. PMID: 35500790
The document presents an overview of arrhythmias in NMDs followed by detailed sections on specific disorders: Duchenne muscular dystrophy, Becker muscular dystrophy, and limb-girdle muscular dystrophy type 2; myotonic dystrophy type 1 and type 2; Emery …
The document presents an overview of arrhythmias in NMDs followed by detailed sections on specific disorders: Duchenne muscular dystrophy, B …
PYROXD1-associated myopathy.
D'Costa MS, Bugiardini E, Merve A, Morrow JM. D'Costa MS, et al. BMJ Case Rep. 2024 Mar 29;17(3):e259907. doi: 10.1136/bcr-2024-259907. BMJ Case Rep. 2024. PMID: 38553017
PYROXD1-associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previous cases having been reported in the literature. ...
PYROXD1-associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previou …
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P, Milone M. Chompoopong P, et al. Genes (Basel). 2023 Jan 31;14(2):372. doi: 10.3390/genes14020372. Genes (Basel). 2023. PMID: 36833299 Free PMC article. Review.
The clinical spectrum of GMPPB-related disorders spans from severe congenital muscular dystrophy (CMD) with brain and eye abnormalities to mild forms of limb-girdle muscular dystrophy (LGMD) to recurrent rhabdomyolysis without overt muscle weakness. .. …
The clinical spectrum of GMPPB-related disorders spans from severe congenital muscular dystrophy (CMD) with brain and eye abnormalities to m …
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, Bönnemann CG, Klee EW. Morales-Rosado JA, et al. Am J Hum Genet. 2023 Jun 1;110(6):989-997. doi: 10.1016/j.ajhg.2023.04.006. Epub 2023 May 10. Am J Hum Genet. 2023. PMID: 37167966 Free PMC article.
Dysferlinopathies: Clinical and genetic variability.
Ivanova A, Smirnikhina S, Lavrov A. Ivanova A, et al. Clin Genet. 2022 Dec;102(6):465-473. doi: 10.1111/cge.14216. Epub 2022 Sep 6. Clin Genet. 2022. PMID: 36029111 Review.
At least four forms of dysferlinopathies have been described: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset, and isolated hyperCKemia. ...
At least four forms of dysferlinopathies have been described: Miyoshi myopathy, limb-girdle muscular dystrophy t …
Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?
Jeong SY, Choi JH, Kim J, Woo JS, Lee EH. Jeong SY, et al. Cells. 2023 Aug 19;12(16):2104. doi: 10.3390/cells12162104. Cells. 2023. PMID: 37626915 Free PMC article. Review.
Genetic variations in the TRIM32 gene are associated with skeletal muscular dystrophies in humans, including limb-girdle muscular dystrophy type 2H (LGMD2H). LGMD2H-causing genetic variations of TRIM32 occur most frequently in the C-terminal NHL (ncl-1 …
Genetic variations in the TRIM32 gene are associated with skeletal muscular dystrophies in humans, including limb-girdle mu …
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a 59% 'solved' and 13% …
In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherite …
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.
Mianesaz H, Ghalamkari S, Salehi M, Behnam M, Hosseinzadeh M, Basiri K, Ghasemi M, Sedghi M, Ansari B. Mianesaz H, et al. Mol Genet Genomic Med. 2023 Feb;11(2):e2101. doi: 10.1002/mgg3.2101. Epub 2022 Nov 14. Mol Genet Genomic Med. 2023. PMID: 36374152 Free PMC article.
BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is a non-syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. ...
BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is a non-syndromic muscular dystrophy caused by variations in …
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. de Bruyn A, et al. Brain. 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088. Brain. 2023. PMID: 36913258
Anoctamin-5 related muscle disease is caused by biallelic pathogenic variants in the anoctamin-5 gene (ANO5) and shows variable clinical phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), distal muscular dystrophy type 3 (MMD3), pseudometab …
Anoctamin-5 related muscle disease is caused by biallelic pathogenic variants in the anoctamin-5 gene (ANO5) and shows variable clinical phe …
Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).
Hagedorn JL, Dunn TM, Bhattarai S, Stephan C, Mathews KD, Pfeifer W, Drack AV. Hagedorn JL, et al. Doc Ophthalmol. 2023 Feb;146(1):7-16. doi: 10.1007/s10633-022-09909-4. Epub 2022 Nov 18. Doc Ophthalmol. 2023. PMID: 36399172
The dystroglycanopathy phenotype includes a spectrum of severity ranging from severe congenital muscular dystrophy to adult-onset limb-girdle muscular dystrophy (LGMD). LGMDR9 is a dystroglycanopathy caused by mutations in the FKRP gene. ...
The dystroglycanopathy phenotype includes a spectrum of severity ranging from severe congenital muscular dystrophy to adult-onset limb …
93 results