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35198268,33337384,33335567,32018938,31788660,31776291,30585608,29797799,28103310,27861222,27020652,26677118,26583491,25900067,24715573,23597518,22926650,21386772,20739790,20517216,19926129,19226146,18073330,17594342,17526799,17258832,16934440,16816913,11485017,11301229,10987085,10814721,9813455,9777948,9771675,9642272,9150160,8784805,8537379,7762565,7720071,37902576,37817200,36670850,36462560,36385624,36247336,36200845,36130069,36074078,35863881,35820725,35135626,35128334,34980535,34514031,33931068,33892779,33862537,33505349,33086952,33083225,32896923,32687008,32557990,32397577,32342993,32270295,31991774,31868790,31656265,31555977,31501033,31179886,30592019,30500922,30134390,30056071,29526945,29464469,29312873,28881388,28666675,28602176,28428721,28330496,28300015,28190647,28131390,27955822,27875630,27543875,27503258,27262491,27081656,27005420,26484845,26034478,26032656,25957356,25672866,25443993,25414144,25200581,25079074,25030569,25016423,24424174,24383838,24048893,23870431,23864287,23846623,23553538,22622166,22378277,22006685,21852041,21321956,21172462,20580976,20532934,20301490,20092694,19937460,19556129,19513726,19364062,19348178,19285864,19167890,19048948,19043319,18779423,18386630,18337726,17702496,17318636,17157502,17067618,17001893,16964419,16607617,16542520,16426924,16372320,16344536,16141003,16100770,15792865,15770667,15694138,15689361,15351423,15221789,14981715,14645990,14578192,12890817,12720042,12534990,12461690,11870728,11808347,11785010,11642521,11562567,11297944,11296367,11176312,11072522,10735275,10679950,10548287,10486166,10330340,10069710,9931994,9812210,9410261,9308550,9248341,9133947,9077514,9041834,9000811,8711539,8507701,7669620,7648245,7636925,7633422,7420336,7373622,7134742,6887171,6767223,6572232,6261355,4079956,3981504,3940502,3690437,3668990,3664165,3115553,3083733,2518705,2496630,2491737,2374505,2273502,2117869,1995239,1884289,1693928,1586892,1536667,534317,33899113,33308300,32801165,32200007,31410652,30415788,30254072,29382717,28000226,27500519,27259757,27055500,26501342,26363099,25512505,25252031,23908349,22931740,22820870,22505582,22158424,21496626,21295580,20421977,20139084,19015733,18974005,18676612,18563459,18413479,18055493,17979987,17596655,17371879,17215327,17051641,16982691,16971480,16884488,16627476,16533054,16125114,15961411,15757244,15336956,15138196,15079794,15073171,14645524,14594950,12843569,12084932,12044555,11829483,11371436,11134085,11053681,10838251,10639725,10330145,9478008,8887539,37852290,37716854,36999564,36833417,36793650,36347473,35731190,35723113,35527561,35500431,35393236,35175440,35157181,34985130,34863162,34697879,34472379,34355366,34298987,34110586,33965408,33741228,33458576,33445560,33427631,33386810,33205074,32994280,32668095,32448375,32293312,31937337,31540302,31498126,31268554,30919934,30838351,29685414,29472383,29350766,28687063,28403181,28314630,27911336,27558075,27262448,26886200,26810512,26810373,26632398,26503425,26155063,25877298,25663498,25440984,25252238,25135358,24843229,24803842,24647604,24618072,24331362,23821418,23687351,23670307,23622359,23479141,23035061,22983245,22825607,22443334,22057634,21940993,21624972,21109228,20736973,20635405,20634290,20623375,20477750,20460380,20177980,20046828,20044116,19483197,19181097,18854869,18334579,18310072,18193633,18031465,17994539,17562833,17339125,17330087,17021404,16634037,16411092,16280346,15938573,15884399,15843148,15833425,15726252,15725583,15651326,15367920,15316618,14959561,14678799,12921790,12812755,12379311,12235836,11665864,11525884,11294923,11166169,11166162,11073356,10807695,10791095,10619713,10607827,9762961,9655129,9309713,9309711,9266733,9245996,9018440,8968750,8929943,8899051,8841194,8776597,8528203,8320700,8012357,8004096,7795603,1363783,29241457,37974208,37964752,37962193,37886601,37491733,36265364,35894554,35611103,35500790,35465312,35366260,35309930,35273475,35169782,34720847,34549305,34422912,34201303,34079727,33836912,33823207,33250842,32022614,31890729,31804947,31791368,31743252,31263448,30713952,30553274,30304034,30084281,30059829,30028523,29688081,28832350,28615891,28487742,27896078,27861229,27671536,27540592,27011640,27005675,26668818,26313391,26238890,26060040,25910175,25873780,25596466,25582030,25293420,25206500,25025777,24753464,24370491,23707407,23512655,23414389,23169433,20592470,20449587,20301582,19793101,19386580,19287313,19015158,18514433,17585039,17236769,16453164,16163577,16092148,15651352,14506720[uid]

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Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos.

Quilacio JMS, Rosales RL, Ampil ER. Quilacio JMS, et al. Cureus. 2022 Jan 18;14(1):e21353. doi: 10.7759/cureus.21353. eCollection 2022 Jan. Cureus. 2022. PMID: 35198268 Free PMC article.

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.

Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M. Pathak P, et al. J Neuromuscul Dis. 2021;8(1):125-136. doi: 10.3233/JND-200547. J Neuromuscul Dis. 2021. PMID: 33337384

Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.

Zheng J, Xu X, Zhang X, Wang X, Shu J, Cai C. Zheng J, et al. Exp Ther Med. 2021 Feb;21(2):104. doi: 10.3892/etm.2020.9536. Epub 2020 Nov 27. Exp Ther Med. 2021. PMID: 33335567 Free PMC article.

Limb girdle muscular dystrophy type 2A presenting with cardiac arrest.

Di Ri K E, Aydin A, Kurul S, Şahi N B. Di Ri K E, et al. Pediatr Neurol. 2001 Mar;24(3):235-237. doi: 10.1016/S0887-8994(00)00262-9. Pediatr Neurol. 2001. PMID: 32018938

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.

Peric S, Stevanovic J, Johnson K, Kosac A, Peric M, Brankovic M, Marjanovic A, Jankovic M, Banko B, Milenkovic S, Durdic M, Bozovic I, Glumac JN, Lavrnic D, Maksimovic R, Milic-Rasic V, Rakocevic-Stojanovic V. Peric S, et al. Acta Myol. 2019 Sep 1;38(3):163-171. eCollection 2019 Sep. Acta Myol. 2019. PMID: 31788660 Free PMC article.

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.

Lostal W, Roudaut C, Faivre M, Charton K, Suel L, Bourg N, Best H, Smith JE, Gohlke J, Corre G, Li X, Elbeck Z, Knöll R, Deschamps JY, Granzier H, Richard I. Lostal W, et al. Sci Transl Med. 2019 Nov 27;11(520):eaat6072. doi: 10.1126/scitranslmed.aat6072. Sci Transl Med. 2019. PMID: 31776291 Free PMC article.

[Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A].

Rudenskaya GE, Bulakh MV, Milovidova TB, Shchagina OA. Rudenskaya GE, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(11):72-76. doi: 10.17116/jnevro201811811172. Zh Nevrol Psikhiatr Im S S Korsakova. 2018. PMID: 30585608 Russian.

Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging.

Feng X, Luo S, Li J, Yue D, Xi J, Zhu W, Gao X, Guan X, Lu J, Liang Z, Zhao C. Feng X, et al. Muscle Nerve. 2018 Oct;58(4):536-541. doi: 10.1002/mus.26169. Epub 2018 Sep 3. Muscle Nerve. 2018. PMID: 29797799

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC. Pantoja-Melendez CA, et al. PLoS One. 2017 Jan 19;12(1):e0170280. doi: 10.1371/journal.pone.0170280. eCollection 2017. PLoS One. 2017. PMID: 28103310 Free PMC article.

Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.

Al-Harbi TM, Abdulmanaʼ SO, Dridi W. Al-Harbi TM, et al. J Clin Neuromuscul Dis. 2016 Dec;18(2):89-91. doi: 10.1097/CND.0000000000000129. J Clin Neuromuscul Dis. 2016. PMID: 27861222

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