218 related articles for article (PubMed ID: 32664072)
1. Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report.
Lee SJ; Choi E; Shin S; Park J
Medicine (Baltimore); 2020 Jul; 99(28):e20810. PubMed ID: 32664072
[TBL] [Abstract][Full Text] [Related]
2. Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: A case report.
Li Q; Tan C; Chen J; Zhang L
Medicine (Baltimore); 2020 Oct; 99(41):e22615. PubMed ID: 33031319
[TBL] [Abstract][Full Text] [Related]
3. Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
Li L; Jing Z; Cheng L; Liu W; Wang H; Xu Y; Zheng X; Yu X; Liu S
J Gene Med; 2020 Nov; 22(11):e3272. PubMed ID: 32889728
[TBL] [Abstract][Full Text] [Related]
4. Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
Chen YL; Wu WB; Wang P; Yip PK; Wu YN; Lin YH; Lin WN
Physiol Rep; 2023 Dec; 11(24):e15887. PubMed ID: 38110300
[TBL] [Abstract][Full Text] [Related]
5. A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
Spadafora P; Qualtieri A; Cavalcanti F; Di Palma G; Gallo O; De Benedittis S; Cerantonio A; Citrigno L
Int J Mol Sci; 2022 Aug; 23(16):. PubMed ID: 36012197
[TBL] [Abstract][Full Text] [Related]
6. [Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].
Liu Z; Liao H; Zhang X; Zhang H; Liu H; Wang H; Liu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):498-501. PubMed ID: 30098242
[TBL] [Abstract][Full Text] [Related]
7. Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review.
Xu C; Chen J; Zhang Y; Li J
Medicine (Baltimore); 2018 May; 97(21):e10539. PubMed ID: 29794729
[TBL] [Abstract][Full Text] [Related]
8. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
Takahashi T; Aoki M; Suzuki N; Tateyama M; Yaginuma C; Sato H; Hayasaka M; Sugawara H; Ito M; Abe-Kondo E; Shimakura N; Ibi T; Kuru S; Wakayama T; Sobue G; Fujii N; Saito T; Matsumura T; Funakawa I; Mukai E; Kawanami T; Morita M; Yamazaki M; Hasegawa T; Shimizu J; Tsuji S; Kuzuhara S; Tanaka H; Yoshioka M; Konno H; Onodera H; Itoyama Y
J Neurol Neurosurg Psychiatry; 2013 Apr; 84(4):433-40. PubMed ID: 23243261
[TBL] [Abstract][Full Text] [Related]
9. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA; Guecaimburu Ehuletche MDR; Perna A; Dubrovsky A; Franca MC; Vargas S; Hegde M; Claeys KG; Straub V; Daba N; Faria R; Periquet M; Sparks S; Thibault N; Araujo R
Orphanet J Rare Dis; 2020 Jan; 15(1):11. PubMed ID: 31931849
[TBL] [Abstract][Full Text] [Related]
10. A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
Hesami H; Ghasemi S; Houshmand G; Nilipour Y; Hesami M; Biglari A; Nafissi S; Maleki M; Kalayinia S
BMC Musculoskelet Disord; 2024 Mar; 25(1):241. PubMed ID: 38539162
[TBL] [Abstract][Full Text] [Related]
11. Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia.
Algahtani H; Shirah B; Alassiri AH; Habib BA; Almuhanna R; Ahamed MF
J Back Musculoskelet Rehabil; 2018; 31(5):999-1004. PubMed ID: 29966189
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B.
Aldosari KH; Al-Ghamdi S; Alkhathlan KM; Alkhalidi HM
Neurosciences (Riyadh); 2020 Jul; 25(3):214-217. PubMed ID: 32683403
[TBL] [Abstract][Full Text] [Related]
13. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP; Macias A; Piechota M; Korostyński M; Potulska-Chromik A; Redowicz MJ; Zekanowski C
Hum Genomics; 2018 Jul; 12(1):34. PubMed ID: 29970176
[TBL] [Abstract][Full Text] [Related]
14. The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
Izumi R; Takahashi T; Suzuki N; Niihori T; Ono H; Nakamura N; Katada S; Kato M; Warita H; Tateyama M; Aoki Y; Aoki M
Hum Mutat; 2020 Sep; 41(9):1540-1554. PubMed ID: 32400077
[TBL] [Abstract][Full Text] [Related]
15. Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.
Okubo M; Iida A; Hayashi S; Mori-Yoshimura M; Oya Y; Watanabe A; Arahata H; El Sherif R; Noguchi S; Nishino I
J Neurol Sci; 2018 Dec; 395():169-171. PubMed ID: 30366248
[No Abstract] [Full Text] [Related]
16. Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
Liang WC; Jong YJ; Wang CH; Wang CH; Tian X; Chen WZ; Kan TM; Minami N; Nishino I; Wong LC
Orphanet J Rare Dis; 2020 Jun; 15(1):160. PubMed ID: 32576226
[TBL] [Abstract][Full Text] [Related]
17. Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity.
Rekik S; Sakka S; Romdhane SB; Amer YB; Lehkim L; Farhat N; Mahfoudh KB; Authier FJ; Dammak M; Mhiri C
Mol Biol Rep; 2020 Aug; 47(8):5755-5761. PubMed ID: 32666437
[TBL] [Abstract][Full Text] [Related]
18. [Progressive muscular weakness of lower limbs revealing a limb girdle muscular dystrophy].
Saintmard G; Brands G; Debray FG; Lognard M
Rev Med Liege; 2017 Jul; 72(7-8):373-376. PubMed ID: 28795552
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis and genetic testing analysis of limb-girdle muscular dystrophy type 2U caused by a compound heterozygous mutation in the
Huang J; Miao WH; Guo XF; Ji W
Yi Chuan; 2023 Jun; 45(6):536-542. PubMed ID: 37340967
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
