Results 111 to 120 of about 484,924 (172)

Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and LaminA/C Mutations. [PDF]

JACC Case Rep
Cardona Perez A, Moenning R, Bodkin C, Gutmann L, Helm BM, Wells L, Moore SA, Ilonze OJ.   +7 more
europepmc   +1 more source

Inflammation-Linked Muscle Atrophy in Limb Girdle Muscular Dystrophy R1 (LGMDR1): Insights into Disease Mechanisms. [PDF]

Curr Issues Mol Biol
Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK.   +3 more
europepmc   +1 more source

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

, 2017
\ua9 2017 Elsevier B.V. Defects of O-linked glycosylation of alpha-dystroglycan cause a wide spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy associated with abnormal brain and eye development to mild limb girdle ...
Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Sznajer Y, van Tol W, Topf A, Lefeber DJ, Van Parys V, Straub V, Wevers RA, Van den Bergh PYK   +12 more
core  

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9. [PDF]

Neurol Genet
Vissing J, Mozaffar T, Johnson NE, Mathews KD, Wicklund MP, Weihl C, Leung DG, Statland JM, Kang PB, Zingariello CD, Lowes LP, Desai U, Bates K, Alfano LN, Xie H, St Romain J, Blankenbiller T, McLendon G, Rajasingham T, Heitzer M, Wu-Zhang AX, Tripp K, Rodriguez HM, Sproule D, as the GRASP-LGMD Consortium.   +24 more
europepmc   +1 more source

Impaired myogenesis in limb girdle muscular dystrophy type 2B. [PDF]

Sci Rep
Souza LS, Ishiba R, Ribeiro-Junior AF, Zogbi IA, Bouragba D, Bigot A, Mouly V, Vainzof M.   +7 more
europepmc   +1 more source

An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India. [PDF]

J Neuromuscul Dis
Baskar D, Polavarapu K, Kotambail A, Arunachal G, Tumulu SK, Kotra M, Gowda D, Nalini A, Vengalil S.   +8 more
europepmc   +1 more source

Correction of aberrant splicing caused by intronic CAPN3 pathogenic variants using RNA-targeted therapeutic strategies in limb-girdle muscular dystrophy type R1. [PDF]

Orphanet J Rare Dis
Li G, Guo Y, Wang G, Liu H, Lv X, Lin P.
europepmc   +1 more source

Acute Liver Failure With Transient Liver Steatosis Following Multiple Hits Postoperatively in a Patient With Limb-Girdle Muscular Dystrophy: A Case Report. [PDF]

Clin Case Rep
Kildal AB, Molden E, Myrseth E, Kjønås D, Oltmanns G, Goll R, Mortensen KE, Nedredal GI.   +7 more
europepmc   +1 more source

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore)
Ji Z, Zheng H, Yang Y, Li D, Li Z, Guo X.   +5 more
europepmc   +1 more source

Limb-girdle muscular dystrophy type R2 manifesting as fetal growth restriction in a woman with two pregnancies: a case report. [PDF]

Gynecol Pelvic Med
Fu KY, Wei Q.
europepmc   +1 more source